ReDisulphID

a tool for identifying redox-active disulphides from structures

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Alpha-galactosidase A

Intramolecular
Cysteine 56 and cysteine 63
Cysteine 378 and cysteine 382
Cysteine 52 and cysteine 94
Cysteine 142 and cysteine 172
Cysteine 202 and cysteine 223
Cysteine 172 and cysteine 174
Cysteine 94 and cysteine 142
Cysteine 142 and cysteine 174
A redox-regulated disulphide may form within Alpha-galactosidase A at these cysteines.

Relevent regions

In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
2.8216295
seq distance
0
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
2.8216295
seq distance
0
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
2.8216295
seq distance
0
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
2.8216295
seq distance
0
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
2.8216295
seq distance
0
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
2.8216295
seq distance
0
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
4.409678
seq distance
3
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
4.409678
seq distance
3
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
4.8607554
seq distance
1
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
4.8607554
seq distance
1
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
4.9110937
seq distance
2
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
4.9110937
seq distance
2
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
5.654491
seq distance
49
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
5.654491
seq distance
49
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
5.654491
seq distance
49
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
5.654491
seq distance
49
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
5.654491
seq distance
49
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
5.654491
seq distance
49
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
5.654491
seq distance
49
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
5.654491
seq distance
49
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
6.1781254
seq distance
3
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
6.1781254
seq distance
3
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
8.221996
seq distance
3
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
8.221996
seq distance
3
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
9.286442
seq distance
50
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
9.286442
seq distance
50
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
9.286442
seq distance
50
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
9.286442
seq distance
50
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
9.286442
seq distance
50
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
9.286442
seq distance
50
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
9.800277
seq distance
4
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
9.800277
seq distance
4
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
9.800277
seq distance
4
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
9.800277
seq distance
4
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
10.44808
seq distance
32
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
10.44808
seq distance
32
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
10.874756
seq distance
31
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
10.874756
seq distance
31
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
10.874756
seq distance
31
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
10.874756
seq distance
31
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
12.124928
seq distance
34
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
12.124928
seq distance
34
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
12.43979
seq distance
8
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
12.43979
seq distance
8
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
12.46094
seq distance
10
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
12.46094
seq distance
10
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
12.46094
seq distance
10
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
12.46094
seq distance
10
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
12.46094
seq distance
10
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
12.46094
seq distance
10
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
12.46094
seq distance
10
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
12.46094
seq distance
10
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
13.365432
seq distance
28
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
13.365432
seq distance
28
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
13.365432
seq distance
28
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
13.365432
seq distance
28
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
13.595823
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
13.595823
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
13.603872
seq distance
30
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
13.603872
seq distance
30
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
13.603872
seq distance
30
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
13.603872
seq distance
30
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
13.633684
seq distance
7
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
13.633684
seq distance
7
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
13.633684
seq distance
7
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
13.633684
seq distance
7
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
13.633684
seq distance
7
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
13.633684
seq distance
7
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
13.69452
seq distance
9
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
13.69452
seq distance
9
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
13.740864
seq distance
9
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
13.740864
seq distance
9
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
13.740864
seq distance
9
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
13.740864
seq distance
9
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
14.034165
seq distance
29
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
14.034165
seq distance
29
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
14.034165
seq distance
29
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
14.034165
seq distance
29
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
14.4099
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
14.4099
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
14.423832
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
14.423832
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
14.423832
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
14.423832
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
15.143251
seq distance
57
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
15.143251
seq distance
57
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
15.143251
seq distance
57
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
15.143251
seq distance
57
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
15.378239
seq distance
238
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
15.378239
seq distance
238
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
15.759623
seq distance
8
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
15.759623
seq distance
8
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
15.902547
seq distance
11
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
15.902547
seq distance
11
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
16.063726
seq distance
235
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
16.063726
seq distance
235
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
16.063726
seq distance
235
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
16.063726
seq distance
235
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
16.063726
seq distance
235
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
16.063726
seq distance
235
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
16.162485
seq distance
80
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
16.162485
seq distance
80
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
16.162485
seq distance
80
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
16.162485
seq distance
80
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
16.281242
seq distance
237
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
16.281242
seq distance
237
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
16.895605
seq distance
234
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
16.895605
seq distance
234
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
17.18365
seq distance
26
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
17.18365
seq distance
26
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
17.18365
seq distance
26
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
17.18365
seq distance
26
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
17.559078
seq distance
71
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
17.559078
seq distance
71
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
17.590427
seq distance
81
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
17.590427
seq distance
81
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
18.24947
seq distance
58
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
18.24947
seq distance
58
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
18.881212
seq distance
68
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
18.881212
seq distance
68
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
18.997738
seq distance
83
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
18.997738
seq distance
83
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
19.251575
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
19.251575
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
19.285353
seq distance
37
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
19.285353
seq distance
37
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
19.285353
seq distance
37
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
19.285353
seq distance
37
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
19.376154
seq distance
79
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
19.376154
seq distance
79
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
19.376154
seq distance
79
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
19.376154
seq distance
79
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
19.507177
seq distance
209
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
19.507177
seq distance
209
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
19.507177
seq distance
209
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
19.507177
seq distance
209
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
19.677893
seq distance
72
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
19.677893
seq distance
72
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
19.709673
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
19.709673
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
19.709673
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
19.709673
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
19.929333
seq distance
233
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
19.929333
seq distance
233
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
19.929333
seq distance
233
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
19.929333
seq distance
233
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
21.15263
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
21.15263
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
21.15263
seq distance
False
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
21.15263
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
21.15263
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
21.15263
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
21.289894
seq distance
206
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
21.289894
seq distance
206
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
21.289894
seq distance
206
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
21.289894
seq distance
206
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
21.31598
seq distance
13
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
21.31598
seq distance
13
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
21.417273
seq distance
101
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
21.417273
seq distance
101
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
21.417273
seq distance
101
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
21.417273
seq distance
101
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
21.629927
seq distance
99
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
21.629927
seq distance
99
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
21.629927
seq distance
99
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
21.629927
seq distance
99
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
21.64052
seq distance
171
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
21.64052
seq distance
171
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
21.880188
seq distance
204
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
21.880188
seq distance
204
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
22.138512
seq distance
104
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
22.138512
seq distance
104
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
22.736757
seq distance
103
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
22.736757
seq distance
103
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
22.94857
seq distance
107
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
22.94857
seq distance
107
chain
B
Nucleophile
position
170
score
100.0
distance
22.94857
seq distance
107
chain
B
Nucleophile
position
170
score
100.0
distance
22.94857
seq distance
107
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
22.958998
seq distance
100
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
22.958998
seq distance
100
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
23.198921
seq distance
168
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
23.198921
seq distance
168
chain
B
Proton donor
position
231
score
100.0
distance
23.198921
seq distance
168
chain
B
Proton donor
position
231
score
100.0
distance
23.198921
seq distance
168
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
23.381102
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
23.381102
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
23.381102
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
23.381102
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
23.381102
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
23.381102
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
23.466864
seq distance
102
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
23.466864
seq distance
102
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
23.566313
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
23.566313
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
23.900242
seq distance
23
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
23.900242
seq distance
23
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
23.900242
seq distance
23
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
23.900242
seq distance
23
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
24.277037
seq distance
203
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
24.277037
seq distance
203
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
24.277037
seq distance
203
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
24.277037
seq distance
203
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
24.277037
seq distance
203
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
24.277037
seq distance
203
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
24.308037
seq distance
85
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
24.308037
seq distance
85
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
24.308037
seq distance
85
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
24.308037
seq distance
85
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
24.415602
seq distance
109
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
24.415602
seq distance
109
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
24.415602
seq distance
109
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
24.415602
seq distance
109
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
24.74271
seq distance
65
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
24.74271
seq distance
65
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
25.030159
seq distance
14
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
25.030159
seq distance
14
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
25.030159
seq distance
14
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
25.030159
seq distance
14
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
25.030159
seq distance
14
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
25.030159
seq distance
14
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
25.325394
seq distance
172
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
25.325394
seq distance
172
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
25.531536
seq distance
17
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
25.531536
seq distance
17
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
25.63186
seq distance
138
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
25.63186
seq distance
138
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
25.709795
seq distance
108
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
25.709795
seq distance
108
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
26.217606
seq distance
75
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
26.217606
seq distance
75
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
26.286016
seq distance
93
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
26.286016
seq distance
93
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
26.286016
seq distance
93
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
26.286016
seq distance
93
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
26.466719
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
26.466719
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
26.764795
seq distance
167
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
26.764795
seq distance
167
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
26.895775
seq distance
139
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
26.895775
seq distance
139
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
26.895775
seq distance
139
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
26.895775
seq distance
139
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
27.06219
seq distance
135
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
27.06219
seq distance
135
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
27.464075
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
27.464075
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
27.49708
seq distance
91
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
27.49708
seq distance
91
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
27.592411
seq distance
164
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
27.592411
seq distance
164
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
27.592411
seq distance
164
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
27.592411
seq distance
164
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
27.610897
seq distance
22
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
27.610897
seq distance
22
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
27.690102
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
27.690102
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.852037
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.852037
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.852037
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.852037
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
28.055172
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
28.055172
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
28.126223
seq distance
202
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
28.126223
seq distance
202
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
28.262234
seq distance
201
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
28.262234
seq distance
201
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
28.262234
seq distance
201
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
28.262234
seq distance
201
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
28.357677
seq distance
217
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
28.357677
seq distance
217
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
28.521765
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
28.521765
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
28.74669
seq distance
246
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
28.74669
seq distance
246
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
28.852484
seq distance
173
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
28.852484
seq distance
173
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
28.852484
seq distance
173
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
28.852484
seq distance
173
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
29.194405
seq distance
163
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
29.194405
seq distance
163
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
29.246845
seq distance
213
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
29.246845
seq distance
213
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
29.690409
seq distance
124
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
29.690409
seq distance
124
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
29.690409
seq distance
124
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
29.690409
seq distance
124
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
29.759031
seq distance
221
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
29.759031
seq distance
221
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
29.953009
seq distance
142
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
29.953009
seq distance
142
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
30.035976
seq distance
133
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
30.035976
seq distance
133
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
30.148884
seq distance
141
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
30.148884
seq distance
141
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
30.373823
seq distance
16
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
30.373823
seq distance
16
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
30.373823
seq distance
16
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
30.373823
seq distance
16
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
30.520308
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
30.520308
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
30.5408
seq distance
165
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
30.5408
seq distance
165
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
30.716734
seq distance
216
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
30.716734
seq distance
216
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
30.716734
seq distance
216
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
30.716734
seq distance
216
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
30.717327
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
30.717327
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
30.74814
seq distance
161
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
30.74814
seq distance
161
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
30.74814
seq distance
161
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
30.74814
seq distance
161
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
30.76112
seq distance
224
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
30.76112
seq distance
224
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
30.76112
seq distance
224
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
30.76112
seq distance
224
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
30.903193
seq distance
179
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
30.903193
seq distance
179
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
30.903193
seq distance
179
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
30.903193
seq distance
179
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.197844
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.197844
seq distance
False
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
31.198278
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
31.198278
seq distance
False
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
31.198278
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
31.198278
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
31.395948
seq distance
120
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
31.395948
seq distance
120
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
31.50678
seq distance
250
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
31.50678
seq distance
250
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
31.50678
seq distance
250
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
31.50678
seq distance
250
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
31.614746
seq distance
160
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
31.614746
seq distance
160
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
31.733717
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
31.733717
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
31.920158
seq distance
200
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
31.920158
seq distance
200
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
31.927902
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
31.927902
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
32.100872
seq distance
253
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
32.100872
seq distance
254
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
32.100872
seq distance
253
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
32.100872
seq distance
254
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
32.123344
seq distance
117
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
32.123344
seq distance
117
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
32.130527
seq distance
20
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
32.130527
seq distance
20
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
32.342033
seq distance
142
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
32.342033
seq distance
142
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
32.543056
seq distance
199
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
32.543056
seq distance
199
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
32.638042
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
32.638042
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
33.105732
seq distance
225
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
33.105732
seq distance
225
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
33.320755
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
33.320755
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
33.366608
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
33.366608
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
33.512844
seq distance
257
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
33.512844
seq distance
257
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
33.512844
seq distance
257
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
33.512844
seq distance
257
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
33.519085
seq distance
222
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
33.519085
seq distance
222
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
33.63475
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
33.63475
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
33.796204
seq distance
180
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
33.796204
seq distance
180
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
33.991894
seq distance
258
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
33.991894
seq distance
258
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
34.12006
seq distance
198
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
34.12006
seq distance
198
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
34.217308
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
34.217308
seq distance
False
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
34.234688
seq distance
False
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
34.234688
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
34.23839
seq distance
253
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
34.23839
seq distance
253
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
34.23839
seq distance
253
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
34.23839
seq distance
253
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
34.452095
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
34.452095
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
34.470673
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
34.470673
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
34.470673
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
34.470673
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
34.73543
seq distance
197
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
34.73543
seq distance
197
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
34.97877
seq distance
22
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
34.97877
seq distance
22
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
35.065643
seq distance
24
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
35.065643
seq distance
24
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
35.5785
seq distance
21
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
35.5785
seq distance
21
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
35.5785
seq distance
21
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
35.5785
seq distance
21
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
35.579803
seq distance
156
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
35.579803
seq distance
156
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
35.579803
seq distance
156
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
35.579803
seq distance
156
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
35.579803
seq distance
156
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
35.579803
seq distance
156
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
35.590122
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
35.590122
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
35.633797
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
35.633797
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
35.633797
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
35.633797
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
35.633797
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
35.633797
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
35.655807
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
35.655807
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
35.73716
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
35.73716
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
35.73716
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
35.73716
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
35.817913
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
35.817913
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
35.817913
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
35.817913
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
35.873775
seq distance
347
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
35.873775
seq distance
347
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
35.98062
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
35.98062
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
36.14127
seq distance
226
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
36.14127
seq distance
226
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
36.14127
seq distance
226
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
36.14127
seq distance
226
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
36.247944
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
36.247944
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
36.247944
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
36.247944
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
36.254623
seq distance
181
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
36.254623
seq distance
181
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
36.254623
seq distance
181
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
36.254623
seq distance
181
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
36.359478
seq distance
252
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
36.359478
seq distance
252
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
36.381878
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
36.381878
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
36.381878
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
36.381878
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
36.658268
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
36.658268
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
36.66258
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
36.66258
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
36.66258
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
36.66258
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
36.717117
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
36.717117
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
36.717117
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
36.717117
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
36.81024
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
36.81024
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
36.968792
seq distance
196
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
36.968792
seq distance
196
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
36.968792
seq distance
196
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
36.968792
seq distance
196
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
37.11079
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
37.11079
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
37.11079
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
37.11079
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
37.196316
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
37.196316
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
37.333366
seq distance
23
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
37.333366
seq distance
23
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
37.477192
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
37.477192
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
37.477192
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
37.477192
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
37.912193
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
37.912193
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
37.912193
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
37.912193
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
37.912193
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
37.912193
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
37.919266
seq distance
151
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
37.919266
seq distance
151
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
38.000423
seq distance
195
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
38.000423
seq distance
195
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
38.030815
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
38.030815
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
38.030815
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
38.030815
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
38.296665
seq distance
264
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
38.296665
seq distance
264
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
38.296665
seq distance
264
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
38.296665
seq distance
264
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
38.296665
seq distance
264
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
38.296665
seq distance
264
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
38.303345
seq distance
153
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
38.303345
seq distance
153
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
38.60338
seq distance
190
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
38.60338
seq distance
190
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
38.94835
seq distance
346
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
38.94835
seq distance
346
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
38.94835
seq distance
346
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
38.94835
seq distance
346
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
38.978905
seq distance
295
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
38.978905
seq distance
295
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
38.978905
seq distance
295
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
38.978905
seq distance
295
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
38.978905
seq distance
295
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
38.978905
seq distance
295
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
39.04721
seq distance
184
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
39.04721
seq distance
184
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
39.04721
seq distance
184
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
39.04721
seq distance
184
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
39.223022
seq distance
260
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
39.223022
seq distance
260
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
39.248062
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
39.248062
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
39.383095
seq distance
351
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
39.383095
seq distance
351
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
39.45116
seq distance
293
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
39.45116
seq distance
293
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
39.45116
seq distance
293
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
39.45116
seq distance
293
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
39.45116
seq distance
293
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
39.45116
seq distance
293
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
39.481823
seq distance
186
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
39.481823
seq distance
186
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
39.512817
seq distance
191
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
39.512817
seq distance
191
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
39.59686
seq distance
265
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
39.59686
seq distance
265
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
39.59686
seq distance
265
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
39.59686
seq distance
265
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
39.59686
seq distance
265
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
39.59686
seq distance
265
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
39.908054
seq distance
152
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
39.908054
seq distance
152
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
40.045902
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
40.045902
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
40.045902
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
40.045902
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
40.103054
seq distance
150
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
40.103054
seq distance
150
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
40.2159
seq distance
289
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
40.2159
seq distance
289
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
41.32292
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
41.32292
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
41.442207
seq distance
277
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
41.442207
seq distance
277
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
41.491974
seq distance
279
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
41.491974
seq distance
279
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
41.491974
seq distance
279
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
41.491974
seq distance
279
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
41.49378
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
41.49378
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
41.49378
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
41.49378
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
41.49378
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
41.49378
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
41.53198
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
41.53198
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.969353
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.969353
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
42.005814
seq distance
267
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
42.005814
seq distance
267
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
42.40515
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
42.40515
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
42.40515
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
42.40515
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
42.40515
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
42.40515
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
42.519615
seq distance
275
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
42.519615
seq distance
275
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
42.52336
seq distance
278
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
42.52336
seq distance
278
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
42.599743
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
42.599743
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
42.599743
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
42.599743
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
42.734276
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
42.734276
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
42.734276
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
42.734276
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
42.734276
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
42.734276
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
43.226147
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
43.226147
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
43.379456
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
43.379456
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
43.418053
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
43.418053
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
43.622112
seq distance
298
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
43.622112
seq distance
298
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
43.876465
seq distance
297
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
43.876465
seq distance
297
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
43.876465
seq distance
297
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
43.876465
seq distance
297
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
43.963398
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
43.963398
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
43.963398
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
43.963398
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
44.09882
seq distance
329
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
44.09882
seq distance
329
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
44.110157
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
44.110157
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
44.282673
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
44.282673
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
44.282673
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
44.282673
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
44.282673
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
44.282673
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
44.343235
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
44.343235
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
44.64621
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
44.64621
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
44.754646
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
44.754646
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
44.754646
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
44.754646
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
45.151703
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
45.151703
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
45.382748
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
45.382748
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
45.723877
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
45.723877
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
45.920574
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
45.920574
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
46.005295
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
46.005295
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
46.036526
seq distance
300
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
46.036526
seq distance
300
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
46.345013
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
46.345013
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
46.345013
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
46.345013
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
46.345013
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
46.345013
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
46.389854
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
46.389854
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
46.42728
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
46.42728
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
46.42728
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
46.42728
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
46.782997
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
46.782997
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
46.782997
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
46.782997
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
46.88672
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
46.88672
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
47.35521
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
47.35521
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
47.426357
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
47.426357
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
47.426357
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
47.426357
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
47.46326
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
47.46326
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
47.93374
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
47.93374
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
47.93374
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
47.93374
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
48.066105
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
48.066105
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
48.066105
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
48.066105
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
48.391056
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
48.391056
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
48.661205
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
48.661205
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
48.661205
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
48.661205
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
48.661205
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
48.661205
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
49.34048
seq distance
310
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
49.34048
seq distance
310
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
49.34048
seq distance
310
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
49.34048
seq distance
310
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
49.407898
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
49.407898
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
49.67753
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
49.67753
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
50.500866
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
50.500866
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
50.500866
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
50.500866
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
50.754543
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
50.754543
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
50.797462
seq distance
341
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
50.797462
seq distance
341
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
50.991623
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
50.991623
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
51.036697
seq distance
320
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
51.036697
seq distance
320
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
51.193344
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
51.193344
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
51.52522
seq distance
314
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
51.52522
seq distance
314
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
51.979282
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
51.979282
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
51.979282
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
51.979282
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
52.144455
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
52.144455
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
52.42377
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
52.42377
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
52.774864
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
52.774864
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
52.807076
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
52.807076
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
52.807076
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
52.807076
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
52.853455
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
52.853455
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
52.97223
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
52.97223
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
52.97223
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
52.97223
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
52.97488
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
52.97488
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
53.249813
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
53.249813
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
53.249813
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
53.249813
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
53.404854
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
53.404854
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
53.41827
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
53.41827
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
53.41827
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
53.41827
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
53.866413
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
53.866413
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
54.042797
seq distance
315
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
54.042797
seq distance
315
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
54.101498
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
54.101498
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
54.101498
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
54.101498
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
54.11936
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
54.11936
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
54.42131
seq distance
333
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
54.42131
seq distance
333
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
54.426487
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
54.426487
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
54.577847
seq distance
312
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
54.577847
seq distance
312
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
54.894577
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
54.894577
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
54.894577
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
54.894577
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
54.933147
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
54.933147
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
54.933147
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
54.933147
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
54.992702
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
54.992702
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
55.204273
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
55.204273
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
55.204273
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
55.204273
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
55.204273
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
55.204273
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
55.443253
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
55.443253
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
55.483997
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
55.483997
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
55.483997
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
55.483997
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
55.67449
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
55.67449
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
55.91116
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
55.91116
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
56.050777
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
56.050777
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
56.050777
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
56.050777
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
56.09302
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
56.09302
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
56.35085
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
56.35085
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
56.507633
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
56.507633
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
56.57985
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
56.57985
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
56.57985
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
56.57985
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
56.58042
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
56.58042
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
56.816456
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
56.816456
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
56.933678
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
56.933678
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
56.985924
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
56.985924
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
56.985924
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
56.985924
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
57.00678
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
57.00678
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
57.667168
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
57.667168
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
58.074272
seq distance
336
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
58.074272
seq distance
336
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
58.299328
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
58.299328
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
58.299328
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
58.299328
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
58.398037
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
58.398037
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
58.398037
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
58.398037
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
58.398037
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
58.398037
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
58.669678
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
58.669678
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
58.924545
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
58.924545
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
58.939327
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
58.939327
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.958157
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.958157
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
58.96931
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
58.96931
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
59.577858
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
59.577858
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
59.72475
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
59.72475
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
59.9865
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
59.9865
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
60.433346
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
60.433346
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
61.05016
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
61.05016
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
61.05016
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
61.05016
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
61.475452
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
61.475452
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
61.475452
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
61.475452
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
61.561043
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
61.561043
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
61.729527
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
61.729527
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
61.729527
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
61.729527
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
61.729527
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
61.729527
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
61.729527
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
61.729527
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
61.979927
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
61.979927
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
62.975395
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
62.975395
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
62.975395
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
62.975395
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
62.975395
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
62.975395
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
63.246418
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
63.246418
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
63.534653
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
63.534653
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
63.534653
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
63.534653
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
64.11276
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
64.11276
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
64.21215
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
64.21215
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
64.69669
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
64.69669
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
64.69669
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
64.69669
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
65.07631
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
65.07631
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
65.18864
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
65.18864
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
65.94054
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
65.94054
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
65.94054
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
65.94054
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
66.18015
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
66.18015
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
66.18015
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
66.18015
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
70.12805
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
70.12805
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
70.12805
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
70.12805
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
70.55758
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
70.55758
seq distance
False
chain
A

Details

Redox score
77.32
PDB code
3s5z
Structure name
pharmacological chaperoning in human alpha-galactosidase
Structure deposition date
2011-05-23
Thiol separation (Å)
4.51
Half-sphere exposure sum
49
Minimum pKa
nan
% buried
10.5
Peptide accession
P06280
Residue number A
56
Residue number B
63
Peptide name
Alpha-galactosidase A
A redox-regulated disulphide may form within Alpha-galactosidase A at these cysteines.

Relevent regions

In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
2.7816339
seq distance
0
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
2.7816339
seq distance
0
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
4.322989
seq distance
1
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
4.322989
seq distance
1
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
5.0533347
seq distance
1
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
5.0533347
seq distance
1
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
6.2638187
seq distance
17
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
6.2638187
seq distance
17
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
6.5718255
seq distance
14
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
6.5718255
seq distance
14
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
7.256366
seq distance
5
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
7.256366
seq distance
5
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
7.256366
seq distance
5
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
7.256366
seq distance
5
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
7.5504556
seq distance
3
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
7.5504556
seq distance
3
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
11.724599
seq distance
37
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
11.724599
seq distance
37
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
12.168008
seq distance
22
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
12.168008
seq distance
22
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
12.720091
seq distance
36
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
12.720091
seq distance
36
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
12.720091
seq distance
36
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
12.720091
seq distance
36
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
13.465829
seq distance
26
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
13.465829
seq distance
26
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
13.500776
seq distance
32
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
13.500776
seq distance
32
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
14.251729
seq distance
38
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
14.251729
seq distance
38
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
14.444803
seq distance
10
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
14.444803
seq distance
10
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
16.247047
seq distance
50
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
16.247047
seq distance
50
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
16.247047
seq distance
50
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
16.247047
seq distance
50
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
16.247047
seq distance
50
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
16.247047
seq distance
50
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
16.351404
seq distance
56
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
16.351404
seq distance
56
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
16.821678
seq distance
89
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
16.821678
seq distance
89
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
16.821678
seq distance
89
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
16.821678
seq distance
89
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
17.095045
seq distance
48
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
17.095045
seq distance
48
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
17.25206
seq distance
63
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
17.25206
seq distance
63
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
17.889376
seq distance
62
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
17.889376
seq distance
62
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
17.889376
seq distance
62
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
17.889376
seq distance
62
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
17.925613
seq distance
40
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
17.925613
seq distance
40
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
18.667675
seq distance
93
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
18.667675
seq distance
93
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
18.888885
seq distance
51
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
18.888885
seq distance
51
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
18.888885
seq distance
51
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
18.888885
seq distance
51
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
18.888885
seq distance
51
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
18.888885
seq distance
51
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
18.979265
seq distance
90
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
18.979265
seq distance
90
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
19.582361
seq distance
58
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
19.582361
seq distance
58
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
19.582361
seq distance
58
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
19.582361
seq distance
58
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
20.516304
seq distance
55
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
20.516304
seq distance
55
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
20.715746
seq distance
61
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
20.715746
seq distance
61
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
21.187683
seq distance
57
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
21.187683
seq distance
57
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
21.579964
seq distance
15
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
21.579964
seq distance
15
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
21.807537
seq distance
91
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
21.807537
seq distance
91
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
21.807537
seq distance
91
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
21.807537
seq distance
91
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
22.029276
seq distance
65
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
22.029276
seq distance
65
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
22.029276
seq distance
65
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
22.029276
seq distance
65
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
22.286367
seq distance
94
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
22.286367
seq distance
94
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
22.369154
seq distance
124
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
22.369154
seq distance
124
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
22.944492
seq distance
131
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
22.944492
seq distance
131
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
22.944492
seq distance
131
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
22.944492
seq distance
131
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
24.129301
seq distance
22
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
24.129301
seq distance
22
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
24.129301
seq distance
22
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
24.129301
seq distance
22
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
24.129301
seq distance
22
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
24.129301
seq distance
22
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
24.16576
seq distance
120
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
24.16576
seq distance
120
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
24.694529
seq distance
135
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
24.694529
seq distance
135
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
24.806425
seq distance
28
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
24.806425
seq distance
28
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
24.97882
seq distance
27
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
24.97882
seq distance
27
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
24.97882
seq distance
27
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
24.97882
seq distance
27
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
25.821182
seq distance
119
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
25.821182
seq distance
119
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
25.821182
seq distance
119
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
25.821182
seq distance
119
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
25.897894
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
25.897894
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
25.95079
seq distance
338
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
25.95079
seq distance
338
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
25.95079
seq distance
338
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
25.95079
seq distance
338
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
26.05726
seq distance
125
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
26.05726
seq distance
125
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.090725
seq distance
98
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.090725
seq distance
98
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
26.128017
seq distance
134
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
26.128017
seq distance
134
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
26.128017
seq distance
134
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
26.128017
seq distance
134
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
26.201464
seq distance
99
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
26.201464
seq distance
99
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
26.201464
seq distance
99
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
26.201464
seq distance
99
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
26.611233
seq distance
69
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
26.611233
seq distance
69
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
26.926966
seq distance
129
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
26.926966
seq distance
129
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
26.995375
seq distance
17
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
26.995375
seq distance
17
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
27.036217
seq distance
116
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
27.036217
seq distance
116
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
27.183905
seq distance
115
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
27.183905
seq distance
115
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
28.14229
seq distance
113
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
28.14229
seq distance
113
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
28.223257
seq distance
136
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
28.223257
seq distance
136
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
28.223257
seq distance
136
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
28.223257
seq distance
136
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
28.233583
seq distance
293
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
28.233583
seq distance
293
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
28.820827
seq distance
114
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
28.820827
seq distance
114
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
28.820827
seq distance
114
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
28.820827
seq distance
114
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
28.9337
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
28.9337
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
28.959528
seq distance
117
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
28.959528
seq distance
117
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
28.999313
seq distance
20
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
28.999313
seq distance
20
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
28.999313
seq distance
20
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
28.999313
seq distance
20
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
28.999313
seq distance
20
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
28.999313
seq distance
20
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
29.335989
seq distance
336
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
29.335989
seq distance
336
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
29.335989
seq distance
336
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
29.335989
seq distance
336
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
29.335989
seq distance
336
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
29.335989
seq distance
336
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
29.375927
seq distance
118
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
29.375927
seq distance
118
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
29.84282
seq distance
18
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
29.84282
seq distance
18
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
29.84282
seq distance
18
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
29.84282
seq distance
18
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
30.104336
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
30.104336
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
30.104336
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
30.104336
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
30.104336
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
30.104336
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
30.14355
seq distance
102
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
30.14355
seq distance
102
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
30.62007
seq distance
142
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
30.62007
seq distance
142
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
30.62007
seq distance
142
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
30.62007
seq distance
142
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
30.69864
seq distance
292
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
30.69864
seq distance
292
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
30.69864
seq distance
292
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
30.69864
seq distance
292
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
30.785837
seq distance
112
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
30.785837
seq distance
112
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
30.785837
seq distance
112
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
30.785837
seq distance
112
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
30.785837
seq distance
112
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
30.785837
seq distance
112
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
31.183245
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
31.183245
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
31.183245
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
31.183245
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
31.362164
seq distance
111
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
31.362164
seq distance
111
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
31.5689
seq distance
109
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
31.5689
seq distance
109
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
31.5689
seq distance
109
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
31.5689
seq distance
109
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
31.861477
seq distance
82
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
31.861477
seq distance
82
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
31.861477
seq distance
82
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
31.861477
seq distance
82
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
31.983274
seq distance
150
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
31.983274
seq distance
150
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
32.421387
seq distance
152
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
32.421387
seq distance
152
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
32.433636
seq distance
162
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
32.433636
seq distance
162
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
32.45749
seq distance
335
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
32.45749
seq distance
335
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
32.58828
seq distance
298
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
32.58828
seq distance
298
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
32.60182
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
32.60182
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
32.60182
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
32.60182
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
32.60182
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
32.60182
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
32.627407
seq distance
154
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
32.627407
seq distance
154
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
32.627407
seq distance
154
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
32.627407
seq distance
154
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
32.740437
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
32.740437
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
32.881145
seq distance
151
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
32.881145
seq distance
151
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
32.881145
seq distance
151
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
32.881145
seq distance
151
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
32.983788
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
32.983788
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
33.016037
seq distance
342
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
33.016037
seq distance
342
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
33.644318
seq distance
143
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
33.644318
seq distance
143
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
33.908737
seq distance
343
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
33.908737
seq distance
343
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
33.908737
seq distance
343
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
33.908737
seq distance
343
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
33.91063
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
33.91063
seq distance
False
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
33.933678
seq distance
False
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
33.933678
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
33.991917
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
33.991917
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
33.991917
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
33.991917
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
34.13564
seq distance
346
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
34.13564
seq distance
346
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
34.57728
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
34.57728
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
34.57728
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
34.57728
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
34.57728
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
34.57728
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
34.740517
seq distance
345
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
34.740517
seq distance
345
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
34.92185
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
34.92185
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
35.01563
seq distance
81
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
35.01563
seq distance
81
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
35.137146
seq distance
144
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
35.137146
seq distance
144
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
35.15248
seq distance
155
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
35.15248
seq distance
155
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
35.23093
seq distance
159
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
35.23093
seq distance
159
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
35.23093
seq distance
159
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
35.23093
seq distance
159
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
35.23093
seq distance
159
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
35.23093
seq distance
159
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
35.270332
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
35.270332
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
35.31488
seq distance
106
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
35.31488
seq distance
106
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
35.31488
seq distance
106
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
35.31488
seq distance
106
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
35.35145
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
35.35145
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
35.373894
seq distance
148
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
35.373894
seq distance
148
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
35.54856
seq distance
163
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
35.54856
seq distance
163
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
35.790485
seq distance
171
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
35.790485
seq distance
173
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
35.790485
seq distance
171
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
35.790485
seq distance
173
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
35.87399
seq distance
177
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
35.87399
seq distance
177
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
35.94453
seq distance
147
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
35.94453
seq distance
147
chain
B
Proton donor
position
231
score
100.0
distance
35.94453
seq distance
147
chain
B
Proton donor
position
231
score
100.0
distance
35.94453
seq distance
147
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
36.053886
seq distance
80
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
36.053886
seq distance
80
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
36.053886
seq distance
80
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
36.053886
seq distance
80
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
36.053886
seq distance
80
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
36.053886
seq distance
80
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
36.056747
seq distance
164
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
36.056747
seq distance
164
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
36.45318
seq distance
344
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
36.45318
seq distance
344
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
36.47066
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
36.47066
seq distance
False
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
36.47066
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
36.47066
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
36.548683
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
36.548683
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
36.762722
seq distance
165
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
36.762722
seq distance
165
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
36.879093
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
36.879093
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
36.879093
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
36.879093
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
36.883255
seq distance
176
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
36.883255
seq distance
176
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
36.883255
seq distance
176
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
36.883255
seq distance
176
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
36.888515
seq distance
332
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
36.888515
seq distance
333
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
36.888515
seq distance
332
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
36.888515
seq distance
333
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
37.244194
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
37.244194
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
37.244194
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
37.244194
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
37.304306
seq distance
78
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
37.304306
seq distance
78
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
37.31965
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
37.31965
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
37.453953
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
37.453953
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
37.63914
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
37.63914
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
37.63914
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
37.63914
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
37.63914
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
37.63914
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
37.63914
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
37.63914
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
37.682587
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
37.682587
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
37.682587
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
37.682587
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
37.682587
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
37.682587
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
37.682587
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
37.682587
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
38.098892
seq distance
330
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
38.098892
seq distance
330
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
38.180725
seq distance
289
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
38.180725
seq distance
289
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
38.180725
seq distance
289
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
38.180725
seq distance
289
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
38.21646
seq distance
174
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
38.21646
seq distance
174
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
38.572193
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
38.572193
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
38.573627
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
38.573627
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
38.573627
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
38.573627
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
38.648083
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
38.648083
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
38.9087
seq distance
212
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
38.9087
seq distance
212
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
39.062973
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
39.062973
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
39.062973
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
39.062973
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
39.34542
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
39.34542
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
39.34542
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
39.34542
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
39.385384
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
39.385384
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
39.54212
seq distance
329
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
39.54212
seq distance
329
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
39.54212
seq distance
329
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
39.54212
seq distance
329
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
39.54212
seq distance
329
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
39.54212
seq distance
329
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
39.56447
seq distance
250
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
39.56447
seq distance
250
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
39.70409
seq distance
180
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
39.70409
seq distance
180
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
39.78786
seq distance
332
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
39.78786
seq distance
332
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
39.78786
seq distance
332
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
39.78786
seq distance
332
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
39.78786
seq distance
332
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
39.78786
seq distance
332
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
39.85177
seq distance
331
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
39.85177
seq distance
331
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
39.85177
seq distance
331
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
39.85177
seq distance
331
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
39.93029
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
39.93029
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
39.93029
seq distance
False
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
39.93029
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
39.93029
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
39.93029
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
40.385017
seq distance
211
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
40.385017
seq distance
211
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
40.456726
seq distance
77
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
40.456726
seq distance
77
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
40.476677
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
40.476677
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
40.476677
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
40.476677
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
40.50209
seq distance
213
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
40.50209
seq distance
213
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
40.571568
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
40.571568
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
40.571568
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
40.571568
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
40.80538
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
40.80538
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
40.80538
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
40.80538
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
40.88083
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
40.88083
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
40.94012
seq distance
247
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
40.94012
seq distance
247
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
40.955814
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
40.955814
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
41.0316
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
41.0316
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
41.122265
seq distance
306
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
41.122265
seq distance
306
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
41.1592
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
41.1592
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
41.1592
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
41.1592
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
41.1592
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
41.1592
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
41.51656
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
41.51656
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
41.51656
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
41.51656
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
41.572113
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
41.572113
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
41.572113
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
41.572113
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
41.574703
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
41.574703
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
41.61094
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
41.61094
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.62915
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.62915
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
41.65526
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
41.65526
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
41.65526
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
41.65526
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
41.917828
seq distance
208
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
41.917828
seq distance
208
chain
B
Nucleophile
position
170
score
100.0
distance
41.917828
seq distance
208
chain
B
Nucleophile
position
170
score
100.0
distance
41.917828
seq distance
208
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
42.043625
seq distance
286
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
42.043625
seq distance
286
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
42.043625
seq distance
286
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
42.043625
seq distance
286
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
42.191147
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
42.191147
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
42.191147
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
42.191147
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
42.267647
seq distance
287
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
42.267647
seq distance
287
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
42.267647
seq distance
287
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
42.267647
seq distance
287
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
42.319344
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
42.319344
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
42.319344
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
42.319344
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
42.607544
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
42.607544
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
43.112976
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
43.112976
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
43.248367
seq distance
207
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
43.248367
seq distance
207
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
43.249325
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
43.249325
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
43.293266
seq distance
244
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
43.293266
seq distance
244
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
44.042282
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
44.042282
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
44.042282
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
44.042282
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
44.042282
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
44.042282
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
44.097065
seq distance
214
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
44.097065
seq distance
214
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
44.097065
seq distance
214
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
44.097065
seq distance
214
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
44.10286
seq distance
182
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
44.10286
seq distance
182
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
44.23335
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
44.23335
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
44.46191
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
44.46191
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
44.46191
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
44.46191
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
44.546906
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
44.546906
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
44.546906
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
44.546906
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
44.546906
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
44.546906
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
44.60372
seq distance
307
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
44.60372
seq distance
307
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
44.68922
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
44.68922
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
44.68922
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
44.68922
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
44.98243
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
44.98243
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
45.06803
seq distance
191
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
45.06803
seq distance
191
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
45.06803
seq distance
191
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
45.06803
seq distance
191
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
45.08063
seq distance
285
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
45.08063
seq distance
285
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
45.08063
seq distance
285
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
45.08063
seq distance
285
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
45.28478
seq distance
198
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
45.28478
seq distance
198
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
45.447403
seq distance
243
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
45.447403
seq distance
243
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
45.47258
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
45.47258
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
45.971115
seq distance
206
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
45.971115
seq distance
206
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
45.971115
seq distance
206
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
45.971115
seq distance
206
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
46.285347
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
46.285347
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
46.295666
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
46.295666
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
46.295666
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
46.295666
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
46.386486
seq distance
257
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
46.386486
seq distance
257
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
46.386486
seq distance
257
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
46.386486
seq distance
257
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
46.443115
seq distance
195
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
46.443115
seq distance
195
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
46.645374
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
46.645374
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
46.752544
seq distance
215
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
46.752544
seq distance
215
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
46.7651
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
46.7651
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
46.7651
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
46.7651
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
46.781517
seq distance
236
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
46.781517
seq distance
236
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
46.781517
seq distance
236
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
46.781517
seq distance
236
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
46.784138
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
46.784138
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
46.79378
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
46.79378
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
46.79378
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
46.79378
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
46.94573
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
46.94573
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
46.94573
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
46.94573
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
46.96131
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
46.96131
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
47.18186
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
47.18186
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
47.2447
seq distance
326
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
47.2447
seq distance
326
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
47.2447
seq distance
326
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
47.2447
seq distance
326
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
47.674885
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
47.674885
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
47.674885
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
47.674885
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
47.718315
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
47.718315
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
47.718315
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
47.718315
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
47.786613
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
47.786613
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
47.786613
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
47.786613
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
47.94048
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
47.94048
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
47.96729
seq distance
222
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
47.96729
seq distance
222
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
47.96729
seq distance
222
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
47.96729
seq distance
222
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
48.06049
seq distance
314
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
48.06049
seq distance
314
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
48.106598
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
48.106598
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
48.251865
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
48.251865
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
48.38974
seq distance
258
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
48.38974
seq distance
258
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
48.398277
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
48.398277
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
48.398277
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
48.398277
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
48.398277
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
48.398277
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
48.492527
seq distance
284
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
48.492527
seq distance
284
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
48.492527
seq distance
284
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
48.492527
seq distance
284
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
48.772274
seq distance
235
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
48.772274
seq distance
235
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
48.772274
seq distance
235
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
48.772274
seq distance
235
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
48.98542
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
48.98542
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
48.98542
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
48.98542
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
49.012417
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
49.012417
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
49.02257
seq distance
283
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
49.02257
seq distance
283
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
49.118736
seq distance
240
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
49.118736
seq distance
240
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
49.17896
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
49.17896
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
49.289764
seq distance
312
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
49.289764
seq distance
312
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
49.38825
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
49.38825
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
49.38825
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
49.38825
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
49.69418
seq distance
313
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
49.69418
seq distance
313
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
49.74053
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
49.74053
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
49.77839
seq distance
216
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
49.77839
seq distance
216
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
49.77839
seq distance
216
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
49.77839
seq distance
216
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
49.84404
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
49.84404
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
49.91567
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
49.91567
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
50.071808
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
50.071808
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
50.071808
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
50.071808
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
50.129173
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
50.129173
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
50.129173
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
50.129173
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
50.129173
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
50.129173
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
50.254368
seq distance
261
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
50.254368
seq distance
261
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
50.32258
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
50.32258
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
50.32503
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
50.32503
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
50.35847
seq distance
230
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
50.35847
seq distance
230
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
50.35847
seq distance
230
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
50.35847
seq distance
230
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
50.684513
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
50.684513
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
50.77682
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
50.77682
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
51.176773
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
51.176773
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
51.308662
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
51.308662
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
51.421406
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
51.421406
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
51.51356
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
51.51356
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
51.611816
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
51.611816
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
51.830368
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
51.830368
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
51.83829
seq distance
234
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
51.83829
seq distance
234
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
52.060738
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
52.060738
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
52.060738
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
52.060738
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
52.149418
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
52.149418
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
52.149418
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
52.149418
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
52.22709
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
52.22709
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
52.244484
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
52.244484
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
52.27185
seq distance
318
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
52.27185
seq distance
318
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
52.31568
seq distance
319
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
52.31568
seq distance
319
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
52.380966
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
52.380966
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
52.380966
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
52.380966
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
52.49366
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
52.49366
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
52.49366
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
52.49366
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
52.5671
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
52.5671
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
52.5671
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
52.5671
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
52.640533
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
52.640533
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
52.640533
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
52.640533
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
52.84604
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
52.84604
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
52.94728
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
52.94728
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
52.97695
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
52.97695
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
53.15115
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
53.15115
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
53.23672
seq distance
265
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
53.23672
seq distance
265
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
53.23672
seq distance
265
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
53.23672
seq distance
265
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
53.23672
seq distance
265
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
53.23672
seq distance
265
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
53.29967
seq distance
232
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
53.29967
seq distance
232
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
53.30036
seq distance
224
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
53.30036
seq distance
224
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
53.30295
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
53.30295
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
53.30295
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
53.30295
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
53.35423
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
53.35423
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
53.35423
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
53.35423
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
53.376232
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
53.376232
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
54.065796
seq distance
266
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
54.065796
seq distance
266
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
54.065796
seq distance
266
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
54.065796
seq distance
266
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
54.065796
seq distance
266
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
54.065796
seq distance
266
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
54.282276
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
54.282276
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.31099
seq distance
322
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.31099
seq distance
322
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.31099
seq distance
322
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.31099
seq distance
322
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.31099
seq distance
322
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.31099
seq distance
322
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
54.34354
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
54.34354
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
54.787155
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
54.787155
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
54.860554
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
54.860554
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
55.123333
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
55.123333
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
55.19349
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
55.19349
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
55.676167
seq distance
281
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
55.676167
seq distance
281
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
55.981766
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
55.981766
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
56.192654
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
56.192654
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
56.480827
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
56.480827
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
56.480827
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
56.480827
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
56.53853
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
56.53853
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
56.53853
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
56.53853
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
56.53853
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
56.53853
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
56.6017
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
56.6017
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
56.857834
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
56.857834
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
56.97335
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
56.97335
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
56.97335
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
56.97335
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
57.29248
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
57.29248
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
57.29248
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
57.29248
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
57.29248
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
57.29248
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
57.53378
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
57.53378
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
57.57951
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
57.57951
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
57.865665
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
57.865665
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
57.953983
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
57.953983
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
57.953983
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
57.953983
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
58.046017
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
58.046017
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
58.1617
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
58.1617
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
58.179256
seq distance
278
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
58.179256
seq distance
278
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
58.179256
seq distance
278
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
58.179256
seq distance
278
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
58.212143
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
58.212143
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
58.332035
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
58.332035
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
58.332035
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
58.332035
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
58.371338
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
58.371338
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
58.468895
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
58.468895
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
59.110477
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
59.110477
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
59.42454
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
59.42454
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
59.42454
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
59.42454
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
59.42454
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
59.42454
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
59.817707
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
59.817707
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
60.150124
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
60.150124
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
60.49315
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
60.49315
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
60.523396
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
60.523396
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
60.767445
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
60.767445
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
60.767445
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
60.767445
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
60.890213
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
60.890213
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
61.321114
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
61.321114
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
61.453335
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
61.453335
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
62.872334
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
62.872334
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
62.921604
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
62.921604
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
62.921604
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
62.921604
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
63.17446
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
63.17446
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
63.501514
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
63.501514
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
63.501514
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
63.501514
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
64.425766
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
64.425766
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
64.66618
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
64.66618
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
65.685715
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
65.685715
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
66.89957
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
66.89957
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
68.152336
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
68.152336
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
69.53054
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
69.53054
seq distance
False
chain
A

Details

Redox score
75.83
PDB code
3hg5
Structure name
human alpha-galactosidase catalytic mechanism 4. product bound
Structure deposition date
2009-05-13
Thiol separation (Å)
2.03
Half-sphere exposure sum
72
Minimum pKa
nan
% buried
nan
Peptide accession
P06280
Residue number A
378
Residue number B
382
Peptide name
Alpha-galactosidase A
A redox-regulated disulphide may form within Alpha-galactosidase A at these cysteines.

Relevent regions

In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
2.7809966
seq distance
0
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
2.7809966
seq distance
0
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
2.7809966
seq distance
0
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
2.7809966
seq distance
0
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
2.785982
seq distance
0
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
2.785982
seq distance
0
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
2.785982
seq distance
0
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
2.785982
seq distance
0
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
4.3737164
seq distance
1
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
4.3737164
seq distance
1
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
4.3737164
seq distance
1
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
4.3737164
seq distance
1
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
4.8521757
seq distance
49
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
4.8521757
seq distance
49
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
4.8521757
seq distance
49
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
4.8521757
seq distance
49
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
6.5536256
seq distance
1
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
6.5536256
seq distance
1
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
7.5619245
seq distance
2
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
7.5619245
seq distance
2
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
7.5619245
seq distance
2
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
7.5619245
seq distance
2
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
7.631581
seq distance
50
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
7.631581
seq distance
50
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
7.7337065
seq distance
48
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
7.7337065
seq distance
48
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
7.7337065
seq distance
48
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
7.7337065
seq distance
48
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
7.923895
seq distance
12
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
7.923895
seq distance
12
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
8.4827795
seq distance
5
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
8.4827795
seq distance
5
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
8.4827795
seq distance
5
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
8.4827795
seq distance
5
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
10.054453
seq distance
3
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
10.054453
seq distance
3
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
10.054453
seq distance
3
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
10.054453
seq distance
3
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
10.13625
seq distance
40
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
10.13625
seq distance
40
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
10.270172
seq distance
6
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
10.270172
seq distance
6
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
10.270172
seq distance
6
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
10.270172
seq distance
6
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
10.270172
seq distance
6
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
10.270172
seq distance
6
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
10.270172
seq distance
6
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
10.270172
seq distance
6
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
10.508402
seq distance
3
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
10.508402
seq distance
3
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
10.919391
seq distance
41
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
10.919391
seq distance
41
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
10.991073
seq distance
13
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
10.991073
seq distance
13
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
11.058962
seq distance
52
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
11.058962
seq distance
52
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
11.28369
seq distance
4
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
11.28369
seq distance
4
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
11.9220495
seq distance
18
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
11.9220495
seq distance
18
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
11.9220495
seq distance
18
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
11.9220495
seq distance
18
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
11.9220495
seq distance
18
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
11.9220495
seq distance
18
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
11.9220495
seq distance
18
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
11.9220495
seq distance
18
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
11.923717
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
11.923717
seq distance
False
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
11.923717
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
11.923717
seq distance
False
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
11.930633
seq distance
4
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
11.930633
seq distance
4
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
11.930633
seq distance
4
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
11.930633
seq distance
4
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
11.930633
seq distance
4
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
11.930633
seq distance
4
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
12.214633
seq distance
3
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
12.214633
seq distance
3
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
12.214633
seq distance
3
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
12.214633
seq distance
3
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
12.214633
seq distance
3
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
12.214633
seq distance
3
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
90.9090909090909
distance
12.778283
seq distance
78
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
90.9090909090909
distance
12.778283
seq distance
78
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
90.9090909090909
distance
12.778283
seq distance
78
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
90.9090909090909
distance
12.778283
seq distance
78
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
12.837873
seq distance
7
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
12.837873
seq distance
7
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
13.2649555
seq distance
19
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
13.2649555
seq distance
19
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
13.2649555
seq distance
19
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
13.2649555
seq distance
19
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
13.2649555
seq distance
19
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
13.2649555
seq distance
19
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
13.89508
seq distance
14
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
13.89508
seq distance
14
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
13.956073
seq distance
7
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
13.956073
seq distance
7
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
14.040987
seq distance
False
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
14.040987
seq distance
False
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
90.9090909090909
distance
14.411253
seq distance
77
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
90.9090909090909
distance
14.411253
seq distance
77
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
14.484604
seq distance
137
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
14.484604
seq distance
137
chain
A
Proton donor
position
231
score
100.0
distance
14.484604
seq distance
137
chain
A
Proton donor
position
231
score
100.0
distance
14.484604
seq distance
137
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
14.644276
seq distance
8
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
14.644276
seq distance
8
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
14.910369
seq distance
203
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
14.910369
seq distance
203
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
15.301097
seq distance
44
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
15.301097
seq distance
44
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
15.304365
seq distance
54
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
15.304365
seq distance
54
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
15.304365
seq distance
54
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
15.304365
seq distance
54
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
15.382812
seq distance
False
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
15.382812
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
90.9090909090909
distance
15.540112
seq distance
73
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
90.9090909090909
distance
15.540112
seq distance
73
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
15.786456
seq distance
6
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
15.786456
seq distance
6
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
15.786456
seq distance
6
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
15.786456
seq distance
6
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
16.431314
seq distance
204
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
16.431314
seq distance
204
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
16.431314
seq distance
204
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
16.431314
seq distance
204
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
16.431314
seq distance
204
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
16.431314
seq distance
204
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
16.722294
seq distance
5
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
16.722294
seq distance
5
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
16.722294
seq distance
5
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
16.722294
seq distance
5
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
16.734745
seq distance
173
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
16.734745
seq distance
173
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
17.055372
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
17.055372
seq distance
False
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
17.055372
seq distance
False
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
17.055372
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
17.055372
seq distance
False
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
17.055372
seq distance
False
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
17.376436
seq distance
136
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
17.376436
seq distance
136
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
17.459604
seq distance
172
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
17.459604
seq distance
172
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
17.459604
seq distance
172
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
17.459604
seq distance
172
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
17.459604
seq distance
172
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
17.459604
seq distance
172
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
17.59118
seq distance
37
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
17.59118
seq distance
37
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
17.781624
seq distance
107
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
17.781624
seq distance
107
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
90.9090909090909
distance
17.895216
seq distance
72
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
90.9090909090909
distance
17.895216
seq distance
72
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
17.91722
seq distance
108
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
17.91722
seq distance
108
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
17.91722
seq distance
108
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
17.91722
seq distance
108
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
17.917583
seq distance
202
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
17.917583
seq distance
202
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
17.917583
seq distance
202
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
17.917583
seq distance
202
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
18.014715
seq distance
26
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
18.014715
seq distance
26
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
18.014715
seq distance
26
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
18.014715
seq distance
26
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
18.021347
seq distance
140
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
18.021347
seq distance
140
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
18.104816
seq distance
20
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
18.104816
seq distance
20
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
18.500027
seq distance
False
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
18.500027
seq distance
False
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
18.500027
seq distance
False
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
18.500027
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
18.596617
seq distance
133
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
18.596617
seq distance
133
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
18.596617
seq distance
133
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
18.596617
seq distance
133
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
18.68797
seq distance
175
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
18.68797
seq distance
175
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
18.68797
seq distance
175
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
18.68797
seq distance
175
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
18.697681
seq distance
70
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
18.697681
seq distance
70
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
18.697681
seq distance
70
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
18.697681
seq distance
70
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
18.973389
seq distance
111
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
18.973389
seq distance
111
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
19.02927
seq distance
19
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
19.02927
seq distance
19
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
19.528545
seq distance
27
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
19.528545
seq distance
27
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
19.53488
seq distance
9
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
19.53488
seq distance
9
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
19.777243
seq distance
110
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
19.777243
seq distance
110
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
19.82881
seq distance
178
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
19.82881
seq distance
178
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
19.82881
seq distance
178
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
19.82881
seq distance
178
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
20.038153
seq distance
62
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
20.038153
seq distance
62
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
20.038153
seq distance
62
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
20.038153
seq distance
62
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
20.066147
seq distance
False
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
20.066147
seq distance
False
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
20.066147
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
20.066147
seq distance
False
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
20.066147
seq distance
False
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
20.066147
seq distance
False
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
20.124025
seq distance
68
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
20.124025
seq distance
68
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
20.124025
seq distance
68
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
20.124025
seq distance
68
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
20.154604
seq distance
206
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
20.154604
seq distance
206
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
90.9090909090909
distance
20.22238
seq distance
71
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
90.9090909090909
distance
20.22238
seq distance
71
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
20.514685
seq distance
132
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
20.514685
seq distance
132
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
20.890173
seq distance
171
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
20.890173
seq distance
171
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
20.907999
seq distance
170
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
20.907999
seq distance
170
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
20.907999
seq distance
170
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
20.907999
seq distance
170
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
21.132309
seq distance
86
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
21.132309
seq distance
86
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
21.16263
seq distance
141
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
21.16263
seq distance
141
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
21.177452
seq distance
134
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
21.177452
seq distance
134
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
21.264484
seq distance
89
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
21.264484
seq distance
89
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
21.277916
seq distance
207
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
21.277916
seq distance
207
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
21.298647
seq distance
93
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
21.298647
seq distance
93
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
21.298647
seq distance
93
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
21.298647
seq distance
93
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
21.47691
seq distance
60
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
21.47691
seq distance
60
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
21.55401
seq distance
69
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
21.55401
seq distance
69
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
21.813051
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
21.813051
seq distance
False
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
21.946602
seq distance
111
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
21.946602
seq distance
111
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
22.119509
seq distance
104
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
22.119509
seq distance
104
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
22.301212
seq distance
10
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
22.301212
seq distance
10
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
22.301212
seq distance
10
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
22.301212
seq distance
10
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
22.301212
seq distance
10
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
22.301212
seq distance
10
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
23.357462
seq distance
8
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
23.357462
seq distance
8
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
23.357462
seq distance
8
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
23.357462
seq distance
8
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
23.471825
seq distance
129
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
23.471825
seq distance
129
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
23.627447
seq distance
148
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
23.627447
seq distance
148
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
23.627447
seq distance
148
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
23.627447
seq distance
148
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
23.663025
seq distance
130
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
23.663025
seq distance
130
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
23.663025
seq distance
130
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
23.663025
seq distance
130
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
23.68129
seq distance
False
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
23.68129
seq distance
False
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
24.30114
seq distance
169
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
24.30114
seq distance
169
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
24.337883
seq distance
False
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
24.337883
seq distance
False
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
24.608547
seq distance
142
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
24.608547
seq distance
142
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
24.608547
seq distance
142
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
24.608547
seq distance
142
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
25.550636
seq distance
168
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
25.550636
seq distance
168
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
25.66203
seq distance
12
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
25.66203
seq distance
12
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
25.66203
seq distance
12
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
25.66203
seq distance
12
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
26.164928
seq distance
193
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
26.164928
seq distance
193
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
26.164928
seq distance
193
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
26.164928
seq distance
193
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
26.17471
seq distance
125
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
26.17471
seq distance
125
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
26.17471
seq distance
125
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
26.17471
seq distance
125
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
26.17471
seq distance
125
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
26.17471
seq distance
125
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
26.248386
seq distance
102
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
26.248386
seq distance
102
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.43078
seq distance
186
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.43078
seq distance
186
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
26.659632
seq distance
34
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
26.659632
seq distance
34
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
26.933254
seq distance
167
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
26.933254
seq distance
167
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
27.019283
seq distance
190
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
27.019283
seq distance
190
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
27.07253
seq distance
9
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
27.07253
seq distance
9
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.110775
seq distance
False
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.110775
seq distance
False
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.110775
seq distance
False
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.110775
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
27.114367
seq distance
149
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
27.114367
seq distance
149
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
27.27294
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
27.27294
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
27.350037
seq distance
16
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
27.350037
seq distance
16
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
27.72264
seq distance
120
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
27.72264
seq distance
120
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
27.87849
seq distance
20
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
27.87849
seq distance
20
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
27.960583
seq distance
False
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
27.960583
seq distance
False
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
27.960583
seq distance
False
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
27.960583
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
27.970995
seq distance
182
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
27.970995
seq distance
182
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
28.071863
seq distance
185
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
28.071863
seq distance
185
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
28.071863
seq distance
185
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
28.071863
seq distance
185
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
28.48544
seq distance
166
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
28.48544
seq distance
166
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
28.510376
seq distance
14
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
28.510376
seq distance
14
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
28.843174
seq distance
150
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
28.843174
seq distance
150
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
28.843174
seq distance
150
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
28.843174
seq distance
150
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
28.969223
seq distance
122
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
28.969223
seq distance
122
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
29.119802
seq distance
194
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
29.119802
seq distance
194
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
29.165546
seq distance
18
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
29.165546
seq distance
18
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
29.245062
seq distance
119
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
29.245062
seq distance
119
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
29.306515
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
29.306515
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
29.859
seq distance
222
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
29.859
seq distance
226
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
29.859
seq distance
226
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
29.859
seq distance
222
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
29.859
seq distance
226
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
29.859
seq distance
226
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
29.934807
seq distance
159
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
29.934807
seq distance
159
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
30.043304
seq distance
121
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
30.043304
seq distance
121
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
30.147112
seq distance
223
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
30.147112
seq distance
223
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
30.181858
seq distance
False
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
30.181858
seq distance
False
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
30.181858
seq distance
False
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
30.181858
seq distance
False
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
30.256872
seq distance
191
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
30.256872
seq distance
191
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
30.283678
seq distance
215
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
30.283678
seq distance
215
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
30.287252
seq distance
False
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
30.287252
seq distance
False
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
30.409441
seq distance
False
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
30.409441
seq distance
False
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
30.58862
seq distance
False
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
30.58862
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
30.668427
seq distance
17
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
30.668427
seq distance
17
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
30.668427
seq distance
17
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
30.668427
seq distance
17
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
30.698011
seq distance
227
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
30.698011
seq distance
227
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
30.704418
seq distance
155
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
30.704418
seq distance
155
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
30.850965
seq distance
19
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
30.850965
seq distance
19
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
30.981419
seq distance
False
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
30.981419
seq distance
False
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
31.080738
seq distance
165
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
31.080738
seq distance
165
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
31.080738
seq distance
165
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
31.080738
seq distance
165
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
31.279263
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
31.279263
seq distance
False
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
31.308401
seq distance
195
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
31.308401
seq distance
195
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
31.308401
seq distance
195
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
31.308401
seq distance
195
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
31.338266
seq distance
153
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
31.338266
seq distance
153
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
31.338266
seq distance
153
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
31.338266
seq distance
153
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
31.338503
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
31.338503
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
31.501242
seq distance
164
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
31.501242
seq distance
164
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
31.506893
seq distance
219
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
31.506893
seq distance
219
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
31.506893
seq distance
219
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
31.506893
seq distance
219
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
31.901705
seq distance
160
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
31.901705
seq distance
160
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
32.025055
seq distance
233
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
32.025055
seq distance
233
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
32.025055
seq distance
233
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
32.025055
seq distance
233
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
32.025055
seq distance
233
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
32.025055
seq distance
233
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
32.359238
seq distance
222
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
32.359238
seq distance
222
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
32.359238
seq distance
222
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
32.359238
seq distance
222
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
32.463852
seq distance
316
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
32.463852
seq distance
316
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
32.582973
seq distance
False
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
32.582973
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
32.762882
seq distance
False
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
32.762882
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
32.762882
seq distance
False
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
32.762882
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
33.024548
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
33.024548
seq distance
False
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
33.409645
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
33.409645
seq distance
False
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
33.409645
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
33.409645
seq distance
False
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
33.482933
seq distance
False
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
33.482933
seq distance
False
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
33.58992
seq distance
234
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
33.58992
seq distance
234
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
33.58992
seq distance
234
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
33.58992
seq distance
234
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
33.58992
seq distance
234
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
33.58992
seq distance
234
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
34.14143
seq distance
False
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
34.14143
seq distance
False
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
34.522137
seq distance
False
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
34.522137
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
34.644386
seq distance
262
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
34.644386
seq distance
262
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
34.644386
seq distance
262
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
34.644386
seq distance
262
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
34.644386
seq distance
262
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
34.644386
seq distance
262
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
35.01439
seq distance
264
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
35.01439
seq distance
264
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
35.01439
seq distance
264
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
35.01439
seq distance
264
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
35.01439
seq distance
264
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
35.01439
seq distance
264
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
35.129898
seq distance
229
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
35.129898
seq distance
229
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
35.22425
seq distance
221
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
35.22425
seq distance
221
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
35.48465
seq distance
236
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
35.48465
seq distance
236
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
35.91856
seq distance
False
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
35.91856
seq distance
False
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
35.91856
seq distance
False
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
35.91856
seq distance
False
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
35.92808
seq distance
246
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
35.92808
seq distance
246
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
36.011555
seq distance
315
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
36.011555
seq distance
315
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
36.011555
seq distance
315
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
36.011555
seq distance
315
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
36.0288
seq distance
258
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
36.0288
seq distance
258
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
36.265446
seq distance
False
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
36.265446
seq distance
False
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
36.265446
seq distance
False
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
36.265446
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
36.284393
seq distance
248
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
36.284393
seq distance
248
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
36.284393
seq distance
248
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
36.284393
seq distance
248
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
36.37666
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
36.37666
seq distance
False
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
36.43041
seq distance
False
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
36.43041
seq distance
False
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
36.43041
seq distance
False
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
36.43041
seq distance
False
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
36.502075
seq distance
320
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
36.502075
seq distance
320
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
36.573498
seq distance
False
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
36.573498
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
36.704666
seq distance
False
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
36.704666
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
36.704666
seq distance
False
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
36.704666
seq distance
False
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
36.908657
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
36.908657
seq distance
False
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
36.908657
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
36.908657
seq distance
False
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
36.910408
seq distance
244
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
36.910408
seq distance
244
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
37.124844
seq distance
False
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
37.124844
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
37.124844
seq distance
False
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
37.124844
seq distance
False
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
37.171455
seq distance
247
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
37.171455
seq distance
247
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
37.241848
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
37.241848
seq distance
False
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
37.30604
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
37.30604
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
37.30604
seq distance
False
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
37.30604
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
37.30604
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
37.30604
seq distance
False
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
37.44501
seq distance
False
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
37.44501
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
37.536854
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
37.536854
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
37.663303
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
37.663303
seq distance
False
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
37.732235
seq distance
False
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
37.732235
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
38.07733
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
38.07733
seq distance
False
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
38.07733
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
38.07733
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
38.07733
seq distance
False
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
38.07733
seq distance
False
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
38.546795
seq distance
False
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
38.546795
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
38.668255
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
38.668255
seq distance
False
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
39.06776
seq distance
False
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
39.06776
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
39.405403
seq distance
False
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
39.405403
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
39.405403
seq distance
False
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
39.405403
seq distance
False
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
39.654884
seq distance
False
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
39.654884
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
40.053566
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
40.053566
seq distance
False
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
40.24724
seq distance
False
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
40.24724
seq distance
False
chain
B
Proton donor
position
231
score
100.0
distance
40.24724
seq distance
False
chain
B
Proton donor
position
231
score
100.0
distance
40.24724
seq distance
False
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
40.486115
seq distance
False
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
40.486115
seq distance
False
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
40.486115
seq distance
False
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
40.486115
seq distance
False
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
40.486115
seq distance
False
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
40.486115
seq distance
False
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
40.50855
seq distance
False
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
40.50855
seq distance
False
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
40.83925
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
40.83925
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
40.83925
seq distance
False
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
40.83925
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
40.83925
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
40.83925
seq distance
False
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
41.07131
seq distance
266
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
41.07131
seq distance
266
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
41.07131
seq distance
266
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
41.07131
seq distance
266
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
41.111366
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
41.111366
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
41.111366
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
41.111366
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
41.183624
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
41.183624
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
41.325085
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
41.325085
seq distance
False
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
41.509975
seq distance
267
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
41.509975
seq distance
267
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
41.997856
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
41.997856
seq distance
False
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
41.997856
seq distance
False
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
41.997856
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
41.997856
seq distance
False
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
41.997856
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
42.04566
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
42.04566
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
42.233208
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
42.233208
seq distance
False
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
42.35428
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
42.35428
seq distance
False
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
42.35428
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
42.35428
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
42.38728
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
42.38728
seq distance
False
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
42.46424
seq distance
False
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
42.46424
seq distance
False
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
42.587475
seq distance
False
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
42.587475
seq distance
False
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
42.587475
seq distance
False
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
42.587475
seq distance
False
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
42.587475
seq distance
False
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
42.587475
seq distance
False
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
42.599174
seq distance
False
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
42.599174
seq distance
False
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
42.599174
seq distance
False
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
42.599174
seq distance
False
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
43.024094
seq distance
269
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
43.024094
seq distance
269
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
43.341946
seq distance
False
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
43.341946
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
43.630775
seq distance
298
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
43.630775
seq distance
298
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
43.850834
seq distance
279
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
43.850834
seq distance
279
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
43.850834
seq distance
279
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
43.850834
seq distance
279
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
44.41649
seq distance
False
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
44.41649
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
44.41649
seq distance
False
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
44.41649
seq distance
False
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
44.820694
seq distance
False
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
44.820694
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
45.12248
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
45.12248
seq distance
False
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
45.42436
seq distance
False
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
45.42436
seq distance
False
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
45.745407
seq distance
False
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
45.745407
seq distance
False
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
45.745407
seq distance
False
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
45.745407
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
46.07432
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
46.07432
seq distance
False
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
46.43862
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
46.43862
seq distance
False
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
46.43862
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
46.43862
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
46.791767
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
46.791767
seq distance
False
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
46.821167
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
46.821167
seq distance
False
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
46.821167
seq distance
False
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
46.821167
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
46.821167
seq distance
False
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
46.821167
seq distance
False
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
46.874363
seq distance
283
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
46.874363
seq distance
283
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
46.8806
seq distance
False
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
46.8806
seq distance
False
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
47.083633
seq distance
False
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
47.083633
seq distance
False
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
47.12043
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
47.12043
seq distance
False
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
47.12043
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
47.12043
seq distance
False
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
47.25333
seq distance
False
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
47.25333
seq distance
False
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
47.26918
seq distance
False
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
47.26918
seq distance
False
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
47.26918
seq distance
False
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
47.26918
seq distance
False
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
47.26918
seq distance
False
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
47.26918
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
47.589817
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
47.589817
seq distance
False
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
47.78397
seq distance
310
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
47.78397
seq distance
310
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
47.90039
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
47.90039
seq distance
False
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
47.98292
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
47.98292
seq distance
False
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
47.98292
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
47.98292
seq distance
False
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
48.175884
seq distance
False
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
48.175884
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
48.316147
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
48.316147
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
48.47985
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
48.47985
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
48.53384
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
48.53384
seq distance
False
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
48.563576
seq distance
289
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
48.563576
seq distance
289
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
49.01046
seq distance
281
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
49.01046
seq distance
281
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
49.079227
seq distance
False
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
49.079227
seq distance
False
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
49.72732
seq distance
False
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
49.72732
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
49.83058
seq distance
284
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
49.83058
seq distance
284
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
49.85388
seq distance
False
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
49.85388
seq distance
False
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
49.85388
seq distance
False
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
49.85388
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
50.235394
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
50.235394
seq distance
False
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
50.41215
seq distance
False
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
50.41215
seq distance
False
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
50.484867
seq distance
False
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
50.484867
seq distance
False
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
50.484867
seq distance
False
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
50.484867
seq distance
False
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
50.762913
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
50.762913
seq distance
False
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
50.762913
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
50.762913
seq distance
False
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
50.87642
seq distance
False
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
50.87642
seq distance
False
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
50.87642
seq distance
False
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
50.87642
seq distance
False
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
51.102867
seq distance
False
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
51.102867
seq distance
False
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
51.461605
seq distance
False
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
51.461605
seq distance
False
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
51.539238
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
51.539238
seq distance
False
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
51.539238
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
51.539238
seq distance
False
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
90.9090909090909
distance
51.75601
seq distance
False
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
90.9090909090909
distance
51.75601
seq distance
False
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
51.77803
seq distance
False
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
51.77803
seq distance
False
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
90.9090909090909
distance
51.895203
seq distance
False
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
90.9090909090909
distance
51.895203
seq distance
False
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
90.9090909090909
distance
51.895203
seq distance
False
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
90.9090909090909
distance
51.895203
seq distance
False
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
51.936558
seq distance
False
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
51.936558
seq distance
False
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
51.936558
seq distance
False
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
51.936558
seq distance
False
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
52.064457
seq distance
False
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
52.064457
seq distance
False
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
52.064457
seq distance
False
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
52.064457
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
52.170746
seq distance
False
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
52.170746
seq distance
False
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
52.170746
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
52.170746
seq distance
False
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
52.170746
seq distance
False
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
52.170746
seq distance
False
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
52.182774
seq distance
False
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
52.182774
seq distance
False
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
52.182774
seq distance
False
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
52.182774
seq distance
False
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
52.26918
seq distance
302
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
52.26918
seq distance
302
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
52.26934
seq distance
False
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
52.26934
seq distance
False
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
52.44018
seq distance
False
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
52.44018
seq distance
False
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
52.44018
seq distance
False
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
52.44018
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
52.72035
seq distance
False
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
52.72035
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
52.72035
seq distance
False
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
52.72035
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
53.28699
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
53.28699
seq distance
False
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
53.34147
seq distance
False
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
53.34147
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
54.02707
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
54.02707
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
54.034294
seq distance
305
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
54.034294
seq distance
305
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
54.289852
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
54.289852
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
54.289852
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
54.289852
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
54.340534
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
54.340534
seq distance
False
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
54.440166
seq distance
False
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
54.440166
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
90.9090909090909
distance
55.172054
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
90.9090909090909
distance
55.172054
seq distance
False
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
90.9090909090909
distance
55.50022
seq distance
False
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
90.9090909090909
distance
55.50022
seq distance
False
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
55.54273
seq distance
False
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
55.54273
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
55.727432
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
55.727432
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
55.868553
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
55.868553
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
56.01671
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
56.01671
seq distance
False
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
56.163136
seq distance
False
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
56.163136
seq distance
False
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
56.220608
seq distance
False
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
56.220608
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
56.220608
seq distance
False
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
56.220608
seq distance
False
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
56.220608
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
56.220608
seq distance
False
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
56.347034
seq distance
False
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
56.347034
seq distance
False
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
56.47986
seq distance
False
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
56.47986
seq distance
False
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
56.863506
seq distance
False
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
56.863506
seq distance
False
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
57.67682
seq distance
False
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
57.67682
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
58.1995
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
58.1995
seq distance
False
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.334484
seq distance
False
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.334484
seq distance
False
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
90.9090909090909
distance
58.36928
seq distance
False
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
90.9090909090909
distance
58.36928
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
58.369667
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
58.369667
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
58.369667
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
58.369667
seq distance
False
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
58.650257
seq distance
False
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
58.650257
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
58.83676
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
58.83676
seq distance
False
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
59.342613
seq distance
False
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
59.342613
seq distance
False
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
59.514168
seq distance
False
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
59.514168
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
60.252243
seq distance
False
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
60.252243
seq distance
False
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
60.252243
seq distance
False
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
60.252243
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
60.252243
seq distance
False
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
60.252243
seq distance
False
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
60.252243
seq distance
False
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
60.252243
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
60.49652
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
60.49652
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
60.49652
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
60.49652
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
60.82208
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
60.82208
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
60.895317
seq distance
False
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
60.895317
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
60.895317
seq distance
False
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
60.895317
seq distance
False
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
61.293556
seq distance
False
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
61.293556
seq distance
False
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
61.293556
seq distance
False
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
61.293556
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
61.716564
seq distance
False
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
61.716564
seq distance
False
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
61.716564
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
61.716564
seq distance
False
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
61.716564
seq distance
False
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
61.716564
seq distance
False
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
61.730064
seq distance
False
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
61.730064
seq distance
False
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
61.730064
seq distance
False
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
61.730064
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
61.784286
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
61.784286
seq distance
False
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
62.61844
seq distance
False
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
62.61844
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
63.92334
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
63.92334
seq distance
False
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
63.951157
seq distance
False
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
63.951157
seq distance
False
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
63.951157
seq distance
False
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
63.951157
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
64.81844
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
64.81844
seq distance
False
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
65.439186
seq distance
False
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
65.439186
seq distance
False
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
65.439186
seq distance
False
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
65.439186
seq distance
False
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
67.20114
seq distance
False
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
67.20114
seq distance
False
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
67.20114
seq distance
False
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
67.20114
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
68.045166
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
68.045166
seq distance
False
chain
B

Details

Redox score
75.13
PDB code
3tv8
Structure name
pharmacological chaperoning in human alpha-galactosidase
Structure deposition date
2011-09-19
Thiol separation (Å)
2.03
Half-sphere exposure sum
64
Minimum pKa
nan
% buried
nan
Peptide accession
P06280
Residue number A
52
Residue number B
94
Peptide name
Alpha-galactosidase A
A redox-regulated disulphide may form within Alpha-galactosidase A at these cysteines.

Relevent regions

In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
2.7973773
seq distance
0
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
2.7973773
seq distance
0
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
2.7973773
seq distance
0
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
2.7973773
seq distance
0
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
2.8199975
seq distance
0
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
2.8199975
seq distance
0
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
2.8199975
seq distance
0
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
2.8199975
seq distance
0
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
5.383998
seq distance
1
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
5.383998
seq distance
1
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
5.573116
seq distance
2
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
5.573116
seq distance
2
chain
A
Nucleophile
position
170
score
100.0
distance
5.573116
seq distance
2
chain
A
Nucleophile
position
170
score
100.0
distance
5.573116
seq distance
2
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
6.367319
seq distance
1
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
6.367319
seq distance
1
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
6.367319
seq distance
1
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
6.367319
seq distance
1
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
8.205777
seq distance
49
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
8.205777
seq distance
49
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
8.205777
seq distance
49
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
8.205777
seq distance
49
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
8.280342
seq distance
2
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
8.280342
seq distance
2
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
8.423972
seq distance
4
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
8.423972
seq distance
4
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
8.543036
seq distance
33
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
8.543036
seq distance
33
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
9.212772
seq distance
7
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
9.212772
seq distance
7
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
10.09614
seq distance
59
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
10.09614
seq distance
59
chain
A
Proton donor
position
231
score
100.0
distance
10.09614
seq distance
59
chain
A
Proton donor
position
231
score
100.0
distance
10.09614
seq distance
59
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
10.35082
seq distance
50
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
10.35082
seq distance
50
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
10.35082
seq distance
50
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
10.35082
seq distance
50
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
10.358614
seq distance
8
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
10.358614
seq distance
8
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
10.693992
seq distance
48
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
10.693992
seq distance
48
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
10.693992
seq distance
48
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
10.693992
seq distance
48
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
11.080608
seq distance
58
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
11.080608
seq distance
58
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
11.335725
seq distance
4
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
11.335725
seq distance
4
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
11.41916
seq distance
32
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
11.41916
seq distance
32
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
11.542118
seq distance
95
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
11.542118
seq distance
95
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
11.542118
seq distance
95
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
11.542118
seq distance
95
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
11.718632
seq distance
90
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
11.718632
seq distance
90
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
11.718632
seq distance
90
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
11.718632
seq distance
90
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
11.7207365
seq distance
30
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
11.7207365
seq distance
30
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
11.7207365
seq distance
30
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
11.7207365
seq distance
30
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
11.801133
seq distance
8
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
11.801133
seq distance
8
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
12.17497
seq distance
55
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
12.17497
seq distance
55
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
12.17497
seq distance
55
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
12.17497
seq distance
55
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
12.259735
seq distance
6
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
12.259735
seq distance
6
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
12.259735
seq distance
6
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
12.259735
seq distance
6
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
13.186737
seq distance
33
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
13.186737
seq distance
33
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
13.228154
seq distance
94
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
13.228154
seq distance
94
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
13.564387
seq distance
47
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
13.564387
seq distance
47
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
13.690644
seq distance
29
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
13.690644
seq distance
29
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
13.935735
seq distance
56
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
13.935735
seq distance
56
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
13.972765
seq distance
94
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
13.972765
seq distance
94
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
13.972765
seq distance
94
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
13.972765
seq distance
94
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
13.972765
seq distance
94
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
13.972765
seq distance
94
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
14.066232
seq distance
51
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
14.066232
seq distance
51
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
14.066232
seq distance
51
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
14.066232
seq distance
51
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
14.13636
seq distance
11
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
14.13636
seq distance
11
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
14.223217
seq distance
5
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
14.223217
seq distance
5
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
14.268381
seq distance
54
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
14.268381
seq distance
54
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
14.638908
seq distance
96
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
14.638908
seq distance
96
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
14.638908
seq distance
96
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
14.638908
seq distance
96
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
14.638908
seq distance
96
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
14.638908
seq distance
96
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
14.638908
seq distance
96
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
14.638908
seq distance
96
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
15.176026
seq distance
97
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
15.176026
seq distance
97
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
15.456576
seq distance
95
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
15.456576
seq distance
95
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
15.885829
seq distance
92
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
15.885829
seq distance
92
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
15.885829
seq distance
92
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
15.885829
seq distance
92
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
16.180475
seq distance
93
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
16.180475
seq distance
93
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
16.21424
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
16.21424
seq distance
False
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
16.21424
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
16.21424
seq distance
False
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
16.393549
seq distance
93
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
16.393549
seq distance
93
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
16.393549
seq distance
93
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
16.393549
seq distance
93
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
16.393549
seq distance
93
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
16.393549
seq distance
93
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
16.401327
seq distance
45
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
16.401327
seq distance
45
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
16.46724
seq distance
15
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
16.46724
seq distance
15
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
16.46724
seq distance
15
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
16.46724
seq distance
15
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
16.712027
seq distance
78
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
16.712027
seq distance
78
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
17.298733
seq distance
125
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
17.298733
seq distance
125
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
17.521528
seq distance
6
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
17.521528
seq distance
6
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
17.782198
seq distance
51
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
17.782198
seq distance
51
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
17.879354
seq distance
42
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
17.879354
seq distance
42
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
18.311193
seq distance
42
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
18.311193
seq distance
42
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
18.311193
seq distance
42
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
18.311193
seq distance
42
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
18.484955
seq distance
62
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
18.484955
seq distance
62
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
18.545748
seq distance
14
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
18.545748
seq distance
14
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
18.545748
seq distance
14
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
18.545748
seq distance
14
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
18.548195
seq distance
91
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
18.548195
seq distance
91
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
18.553095
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
18.553095
seq distance
False
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
18.553095
seq distance
False
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
18.553095
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
18.553095
seq distance
False
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
18.553095
seq distance
False
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
18.568998
seq distance
70
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
18.568998
seq distance
70
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
18.568998
seq distance
70
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
18.568998
seq distance
70
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
18.779408
seq distance
47
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
18.779408
seq distance
47
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
18.779408
seq distance
47
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
18.779408
seq distance
47
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
18.779408
seq distance
47
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
18.779408
seq distance
47
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
19.04709
seq distance
41
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
19.04709
seq distance
41
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
19.088713
seq distance
52
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
19.088713
seq distance
52
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
19.088713
seq distance
52
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
19.088713
seq distance
52
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
19.280762
seq distance
124
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
19.280762
seq distance
124
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
19.280762
seq distance
124
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
19.280762
seq distance
124
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
19.334599
seq distance
97
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
19.334599
seq distance
97
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
19.334599
seq distance
97
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
19.334599
seq distance
97
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
19.577993
seq distance
77
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
19.577993
seq distance
77
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
19.732777
seq distance
False
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
19.732777
seq distance
False
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
19.820768
seq distance
53
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
19.820768
seq distance
53
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
19.820768
seq distance
53
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
19.820768
seq distance
53
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
20.226862
seq distance
126
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
20.226862
seq distance
126
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
20.226862
seq distance
126
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
20.226862
seq distance
126
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
20.226862
seq distance
126
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
20.226862
seq distance
126
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
20.263779
seq distance
12
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
20.263779
seq distance
12
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
20.31805
seq distance
11
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
20.31805
seq distance
11
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
20.356102
seq distance
8
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
20.356102
seq distance
8
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
20.356102
seq distance
8
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
20.356102
seq distance
8
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
20.458382
seq distance
63
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
20.458382
seq distance
63
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
20.468159
seq distance
90
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
20.468159
seq distance
90
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
20.627523
seq distance
99
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
20.627523
seq distance
99
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
20.678644
seq distance
43
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
20.678644
seq distance
43
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
20.776665
seq distance
25
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
20.776665
seq distance
30
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
20.776665
seq distance
30
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
20.776665
seq distance
30
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
20.776665
seq distance
25
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
20.776665
seq distance
30
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
20.776665
seq distance
30
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
20.776665
seq distance
30
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
20.807173
seq distance
26
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
20.807173
seq distance
26
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
20.907642
seq distance
7
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
20.907642
seq distance
7
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
20.922068
seq distance
44
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
20.922068
seq distance
44
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
21.34178
seq distance
29
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
21.34178
seq distance
29
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
21.34178
seq distance
29
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
21.34178
seq distance
29
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
21.34178
seq distance
29
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
21.34178
seq distance
29
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
21.721153
seq distance
89
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
21.721153
seq distance
89
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
21.724394
seq distance
76
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
21.724394
seq distance
76
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
21.965517
seq distance
100
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
21.965517
seq distance
100
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
21.965517
seq distance
100
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
21.965517
seq distance
100
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
21.965517
seq distance
100
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
21.965517
seq distance
100
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
22.217611
seq distance
71
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
22.217611
seq distance
71
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
22.256212
seq distance
False
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
22.256212
seq distance
False
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
22.264019
seq distance
False
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
22.264019
seq distance
False
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
22.264019
seq distance
False
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
22.264019
seq distance
False
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
22.395294
seq distance
86
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
22.395294
seq distance
86
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
22.395294
seq distance
86
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
22.395294
seq distance
86
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
22.395294
seq distance
86
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
22.395294
seq distance
86
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
22.617085
seq distance
False
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
22.617085
seq distance
False
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
22.617085
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
22.617085
seq distance
False
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
22.617085
seq distance
False
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
22.617085
seq distance
False
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
22.644611
seq distance
110
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
22.644611
seq distance
110
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
22.659206
seq distance
100
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
22.659206
seq distance
100
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
22.659206
seq distance
100
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
22.659206
seq distance
100
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
22.76842
seq distance
81
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
22.76842
seq distance
81
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
22.902733
seq distance
64
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
22.902733
seq distance
64
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
22.902733
seq distance
64
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
22.902733
seq distance
64
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
23.054813
seq distance
102
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
23.054813
seq distance
102
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
23.054813
seq distance
102
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
23.054813
seq distance
102
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
23.091982
seq distance
77
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
23.091982
seq distance
77
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
23.14426
seq distance
10
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
23.14426
seq distance
10
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
23.14426
seq distance
10
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
23.14426
seq distance
10
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.286959
seq distance
72
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.286959
seq distance
72
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.286959
seq distance
72
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.286959
seq distance
72
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
23.323908
seq distance
115
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
23.323908
seq distance
115
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
23.323908
seq distance
115
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
23.323908
seq distance
115
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
23.806856
seq distance
83
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
23.806856
seq distance
83
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
23.820591
seq distance
21
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
23.820591
seq distance
22
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
23.820591
seq distance
21
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
23.820591
seq distance
22
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
23.825825
seq distance
9
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
23.825825
seq distance
9
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
23.830946
seq distance
21
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
23.830946
seq distance
21
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
23.870455
seq distance
70
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
23.870455
seq distance
70
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
24.31648
seq distance
88
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
24.31648
seq distance
88
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
24.503286
seq distance
82
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
24.503286
seq distance
82
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
24.684477
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
24.684477
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
24.854832
seq distance
106
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
24.854832
seq distance
106
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
24.87934
seq distance
56
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
24.87934
seq distance
56
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
24.87934
seq distance
56
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
24.87934
seq distance
56
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
25.071182
seq distance
128
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
25.071182
seq distance
128
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
25.17319
seq distance
75
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
25.17319
seq distance
75
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
25.17319
seq distance
75
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
25.17319
seq distance
75
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
25.37905
seq distance
82
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
25.37905
seq distance
82
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
25.498764
seq distance
24
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
25.498764
seq distance
24
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
25.700844
seq distance
108
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
25.700844
seq distance
108
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
25.792274
seq distance
112
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
25.792274
seq distance
112
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
25.937819
seq distance
71
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
25.937819
seq distance
71
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
26.174385
seq distance
109
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
26.174385
seq distance
109
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.36443
seq distance
108
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.36443
seq distance
108
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
26.46318
seq distance
86
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
26.46318
seq distance
86
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
26.512028
seq distance
116
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
26.512028
seq distance
116
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
26.986847
seq distance
87
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
26.986847
seq distance
87
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
26.986847
seq distance
87
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
26.986847
seq distance
87
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
26.997349
seq distance
155
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
26.997349
seq distance
155
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
26.997349
seq distance
155
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
26.997349
seq distance
155
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
26.997349
seq distance
155
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
26.997349
seq distance
155
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.29294
seq distance
107
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.29294
seq distance
107
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.29294
seq distance
107
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.29294
seq distance
107
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
27.315372
seq distance
129
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
27.315372
seq distance
129
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
27.618643
seq distance
144
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
27.618643
seq distance
148
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
27.618643
seq distance
148
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
27.618643
seq distance
144
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
27.618643
seq distance
148
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
27.618643
seq distance
148
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
27.706099
seq distance
117
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
27.706099
seq distance
117
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
27.706099
seq distance
117
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
27.706099
seq distance
117
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
27.727804
seq distance
107
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
27.727804
seq distance
107
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
27.727804
seq distance
107
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
27.727804
seq distance
107
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
28.00155
seq distance
False
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
28.00155
seq distance
False
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
28.00155
seq distance
False
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
28.00155
seq distance
False
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
28.077026
seq distance
57
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
28.077026
seq distance
57
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
28.134115
seq distance
False
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
28.134115
seq distance
False
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
28.2426
seq distance
113
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
28.2426
seq distance
113
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
28.60767
seq distance
156
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
28.60767
seq distance
156
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
28.60767
seq distance
156
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
28.60767
seq distance
156
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
28.60767
seq distance
156
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
28.60767
seq distance
156
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.713144
seq distance
104
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.713144
seq distance
104
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
28.749977
seq distance
149
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
28.749977
seq distance
149
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.88284
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.88284
seq distance
False
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
29.29292
seq distance
False
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
29.29292
seq distance
False
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
29.29292
seq distance
False
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
29.29292
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
29.448187
seq distance
145
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
29.448187
seq distance
145
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
30.014336
seq distance
14
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
30.014336
seq distance
14
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
30.032038
seq distance
158
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
30.032038
seq distance
158
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
30.292128
seq distance
False
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
30.292128
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
30.6044
seq distance
238
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
30.6044
seq distance
238
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
30.683939
seq distance
False
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
30.683939
seq distance
False
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
30.683939
seq distance
False
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
30.683939
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
31.407133
seq distance
144
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
31.407133
seq distance
144
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
31.407133
seq distance
144
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
31.407133
seq distance
144
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.488853
seq distance
168
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.488853
seq distance
168
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
31.497658
seq distance
False
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
31.497658
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
31.50695
seq distance
184
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
31.50695
seq distance
184
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
31.50695
seq distance
184
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
31.50695
seq distance
184
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
31.50695
seq distance
184
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
31.50695
seq distance
184
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
31.916786
seq distance
62
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
31.916786
seq distance
62
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
32.01657
seq distance
170
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
32.01657
seq distance
170
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
32.01657
seq distance
170
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
32.01657
seq distance
170
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
32.11773
seq distance
141
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
32.11773
seq distance
141
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
32.11773
seq distance
141
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
32.11773
seq distance
141
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
32.356964
seq distance
151
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
32.356964
seq distance
151
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
32.405746
seq distance
137
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
32.405746
seq distance
137
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
32.466473
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
32.466473
seq distance
False
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
32.626392
seq distance
166
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
32.626392
seq distance
166
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
32.802902
seq distance
180
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
32.802902
seq distance
180
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
32.8364
seq distance
169
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
32.8364
seq distance
169
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
33.0058
seq distance
False
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
33.0058
seq distance
False
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
33.043213
seq distance
186
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
33.043213
seq distance
186
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
33.043213
seq distance
186
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
33.043213
seq distance
186
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
33.043213
seq distance
186
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
33.043213
seq distance
186
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
33.57602
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
33.57602
seq distance
False
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
33.57602
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
33.57602
seq distance
False
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
33.90593
seq distance
False
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
33.90593
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
34.18698
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
34.18698
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
34.27976
seq distance
False
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
34.27976
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
34.27976
seq distance
False
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
34.27976
seq distance
False
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
34.34308
seq distance
237
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
34.34308
seq distance
237
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
34.34308
seq distance
237
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
34.34308
seq distance
237
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
34.47564
seq distance
242
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
34.47564
seq distance
242
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
34.53839
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
34.53839
seq distance
False
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
34.630497
seq distance
False
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
34.630497
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
34.700302
seq distance
143
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
34.700302
seq distance
143
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
35.800133
seq distance
False
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
35.800133
seq distance
False
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
36.484512
seq distance
False
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
36.484512
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
37.29252
seq distance
False
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
37.29252
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
37.29252
seq distance
False
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
37.29252
seq distance
False
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
37.34437
seq distance
False
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
37.34437
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
37.61634
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
37.61634
seq distance
False
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
37.65517
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
37.65517
seq distance
False
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
37.65517
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
37.65517
seq distance
False
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
38.087315
seq distance
False
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
38.087315
seq distance
False
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
38.191677
seq distance
False
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
38.191677
seq distance
False
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
38.824997
seq distance
False
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
38.824997
seq distance
False
chain
B
Proton donor
position
231
score
100.0
distance
38.824997
seq distance
False
chain
B
Proton donor
position
231
score
100.0
distance
38.824997
seq distance
False
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
38.95675
seq distance
False
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
38.95675
seq distance
False
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
38.95675
seq distance
False
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
38.95675
seq distance
False
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
39.19043
seq distance
201
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
39.19043
seq distance
201
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
39.19043
seq distance
201
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
39.19043
seq distance
201
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
39.600338
seq distance
False
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
39.600338
seq distance
False
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
39.600338
seq distance
False
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
39.600338
seq distance
False
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
39.806587
seq distance
188
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
39.806587
seq distance
188
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
39.806587
seq distance
188
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
39.806587
seq distance
188
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
39.88767
seq distance
False
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
39.88767
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
40.485996
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
40.485996
seq distance
False
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
40.5017
seq distance
189
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
40.5017
seq distance
189
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
40.82704
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
40.82704
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
40.82704
seq distance
False
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
40.82704
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
40.82704
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
40.82704
seq distance
False
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
40.890957
seq distance
191
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
40.890957
seq distance
191
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
40.953945
seq distance
False
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
40.953945
seq distance
False
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
40.958023
seq distance
False
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
40.958023
seq distance
False
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
40.958023
seq distance
False
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
40.958023
seq distance
False
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
40.958023
seq distance
False
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
40.958023
seq distance
False
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.17985
seq distance
False
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.17985
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
41.386448
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
41.386448
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
41.658974
seq distance
False
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
41.658974
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
41.658974
seq distance
False
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
41.658974
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
42.07253
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
42.07253
seq distance
False
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
42.0732
seq distance
False
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
42.0732
seq distance
False
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
42.0732
seq distance
False
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
42.0732
seq distance
False
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
42.0732
seq distance
False
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
42.0732
seq distance
False
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
42.08865
seq distance
False
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
42.08865
seq distance
False
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
42.08865
seq distance
False
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
42.08865
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
42.592
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
42.592
seq distance
False
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
42.717606
seq distance
205
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
42.717606
seq distance
205
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
42.73355
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
42.73355
seq distance
False
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
42.73355
seq distance
False
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
42.73355
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
42.73355
seq distance
False
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
42.73355
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
42.743805
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
42.743805
seq distance
False
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
42.743805
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
42.743805
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
42.743805
seq distance
False
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
42.743805
seq distance
False
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
43.21107
seq distance
False
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
43.21107
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
43.324726
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
43.324726
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
43.350414
seq distance
220
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
43.350414
seq distance
220
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
43.398228
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
43.398228
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
43.541332
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
43.541332
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
43.62514
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
43.62514
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
43.651714
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
43.651714
seq distance
False
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
43.66279
seq distance
False
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
43.66279
seq distance
False
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
43.66279
seq distance
False
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
43.66279
seq distance
False
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
43.86869
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
43.86869
seq distance
False
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
43.86869
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
43.86869
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
43.945885
seq distance
203
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
43.945885
seq distance
203
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
43.966423
seq distance
False
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
43.966423
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
43.966423
seq distance
False
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
43.966423
seq distance
False
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
44.030933
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
44.030933
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
44.030933
seq distance
False
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
44.030933
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
44.030933
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
44.030933
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
44.427364
seq distance
False
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
44.427364
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
44.427364
seq distance
False
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
44.427364
seq distance
False
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
44.715824
seq distance
False
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
44.715824
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
44.740288
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
44.740288
seq distance
False
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
44.74232
seq distance
False
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
44.74232
seq distance
False
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
44.763737
seq distance
False
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
44.763737
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
44.964893
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
44.964893
seq distance
False
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
44.964893
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
44.964893
seq distance
False
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
45.102417
seq distance
False
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
45.102417
seq distance
False
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
45.102417
seq distance
False
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
45.102417
seq distance
False
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
45.106915
seq distance
232
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
45.106915
seq distance
232
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
45.345924
seq distance
False
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
45.345924
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
45.347485
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
45.347485
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
45.476658
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
45.476658
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
45.49136
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
45.49136
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
46.02271
seq distance
206
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
46.02271
seq distance
206
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
46.186344
seq distance
False
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
46.186344
seq distance
False
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
46.42254
seq distance
211
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
46.42254
seq distance
211
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
46.910213
seq distance
False
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
46.910213
seq distance
False
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
47.230747
seq distance
False
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
47.230747
seq distance
False
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
47.230747
seq distance
False
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
47.230747
seq distance
False
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
47.230747
seq distance
False
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
47.230747
seq distance
False
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
47.230747
seq distance
False
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
47.230747
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
47.315052
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
47.315052
seq distance
False
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
47.58437
seq distance
False
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
47.58437
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
47.675934
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
47.675934
seq distance
False
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
47.85593
seq distance
False
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
47.85593
seq distance
False
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
47.85593
seq distance
False
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
47.85593
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
47.991936
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
47.991936
seq distance
False
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
48.098545
seq distance
False
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
48.098545
seq distance
False
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
48.785385
seq distance
False
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
48.785385
seq distance
False
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
48.900288
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
48.900288
seq distance
False
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
48.900288
seq distance
False
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
48.900288
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
49.065823
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
49.065823
seq distance
False
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
49.19602
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
49.19602
seq distance
False
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
49.19602
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
49.19602
seq distance
False
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
49.216896
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
49.216896
seq distance
False
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
49.216896
seq distance
False
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
49.216896
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
49.216896
seq distance
False
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
49.216896
seq distance
False
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
49.489437
seq distance
False
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
49.489437
seq distance
False
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
49.489437
seq distance
False
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
49.489437
seq distance
False
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
49.530758
seq distance
False
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
49.530758
seq distance
False
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
49.530758
seq distance
False
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
49.530758
seq distance
False
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
49.53856
seq distance
False
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
49.53856
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
49.595932
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
49.595932
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
49.734226
seq distance
227
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
49.734226
seq distance
227
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
49.840214
seq distance
False
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
49.840214
seq distance
False
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
49.97467
seq distance
224
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
49.97467
seq distance
224
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
50.108067
seq distance
False
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
50.108067
seq distance
False
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
50.218933
seq distance
False
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
50.218933
seq distance
False
chain
B
Nucleophile
position
170
score
100.0
distance
50.218933
seq distance
False
chain
B
Nucleophile
position
170
score
100.0
distance
50.218933
seq distance
False
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
50.351345
seq distance
False
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
50.351345
seq distance
False
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
50.351345
seq distance
False
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
50.351345
seq distance
False
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
50.577785
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
50.577785
seq distance
False
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
50.577785
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
50.577785
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
50.71221
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
50.71221
seq distance
False
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
50.72384
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
50.72384
seq distance
False
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
50.72384
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
50.72384
seq distance
False
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
50.78659
seq distance
False
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
50.78659
seq distance
False
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
50.78659
seq distance
False
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
50.78659
seq distance
False
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
50.930756
seq distance
False
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
50.930756
seq distance
False
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
51.602276
seq distance
False
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
51.602276
seq distance
False
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
51.668533
seq distance
False
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
51.668533
seq distance
False
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
51.810665
seq distance
False
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
51.810665
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
52.006596
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
52.006596
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
52.264194
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
52.264194
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
52.525135
seq distance
False
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
52.525135
seq distance
False
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
52.525135
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
52.525135
seq distance
False
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
52.525135
seq distance
False
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
52.525135
seq distance
False
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
52.54172
seq distance
False
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
52.54172
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
52.584488
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
52.584488
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
52.61486
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
52.61486
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
52.61486
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
52.61486
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
52.66474
seq distance
False
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
52.66474
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
52.66474
seq distance
False
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
52.66474
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
52.77575
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
52.77575
seq distance
False
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
53.26514
seq distance
False
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
53.26514
seq distance
False
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
53.26514
seq distance
False
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
53.26514
seq distance
False
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
53.352005
seq distance
False
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
53.352005
seq distance
False
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
53.352005
seq distance
False
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
53.352005
seq distance
False
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
53.48563
seq distance
False
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
53.48563
seq distance
False
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
53.48563
seq distance
False
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
53.48563
seq distance
False
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
53.860893
seq distance
False
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
53.860893
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
53.86475
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
53.86475
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
53.914776
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
53.914776
seq distance
False
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
54.1637
seq distance
False
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
54.1637
seq distance
False
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.53624
seq distance
False
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.53624
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.53624
seq distance
False
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.53624
seq distance
False
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.53624
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.53624
seq distance
False
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
54.62943
seq distance
False
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
54.62943
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
55.0322
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
55.0322
seq distance
False
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
55.177814
seq distance
False
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
55.177814
seq distance
False
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
55.210037
seq distance
False
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
55.210037
seq distance
False
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
55.539288
seq distance
False
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
55.539288
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
55.628605
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
55.628605
seq distance
False
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
55.726105
seq distance
False
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
55.726105
seq distance
False
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
56.48651
seq distance
False
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
56.48651
seq distance
False
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
57.12791
seq distance
False
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
57.12791
seq distance
False
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
57.640415
seq distance
False
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
57.640415
seq distance
False
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
58.009457
seq distance
False
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
58.009457
seq distance
False
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.11959
seq distance
False
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.11959
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
58.121235
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
58.121235
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
58.36226
seq distance
False
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
58.36226
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
58.94167
seq distance
False
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
58.94167
seq distance
False
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
58.94167
seq distance
False
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
58.94167
seq distance
False
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
58.94167
seq distance
False
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
58.94167
seq distance
False
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
58.94167
seq distance
False
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
58.94167
seq distance
False
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
59.559128
seq distance
False
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
59.559128
seq distance
False
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
59.559128
seq distance
False
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
59.559128
seq distance
False
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
59.608387
seq distance
False
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
59.608387
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
60.108894
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
60.108894
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
60.133583
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
60.133583
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
60.376278
seq distance
False
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
60.376278
seq distance
False
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
60.376278
seq distance
False
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
60.376278
seq distance
False
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
60.376484
seq distance
False
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
60.376484
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
60.95236
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
60.95236
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
60.95236
seq distance
False
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
60.95236
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
60.962017
seq distance
False
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
60.962017
seq distance
False
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
60.962017
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
60.962017
seq distance
False
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
60.962017
seq distance
False
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
60.962017
seq distance
False
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
61.264557
seq distance
False
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
61.264557
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
61.270317
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
61.270317
seq distance
False
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
61.270317
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
61.270317
seq distance
False
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
61.363026
seq distance
False
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
61.363026
seq distance
False
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
62.148117
seq distance
False
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
62.148117
seq distance
False
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
62.148117
seq distance
False
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
62.148117
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
62.512375
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
62.512375
seq distance
False
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
63.734833
seq distance
False
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
63.734833
seq distance
False
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
63.734833
seq distance
False
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
63.734833
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
64.82745
seq distance
False
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
64.82745
seq distance
False
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
64.95737
seq distance
False
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
64.95737
seq distance
False
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
64.95737
seq distance
False
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
64.95737
seq distance
False
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
65.8811
seq distance
False
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
65.8811
seq distance
False
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
65.8811
seq distance
False
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
65.8811
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
66.18872
seq distance
False
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
66.18872
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
67.1078
seq distance
False
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
67.1078
seq distance
False
chain
B

Details

Redox score
74.44
PDB code
3s5y
Structure name
pharmacological chaperoning in human alpha-galactosidase
Structure deposition date
2011-05-23
Thiol separation (Å)
2.04
Half-sphere exposure sum
60
Minimum pKa
nan
% buried
nan
Peptide accession
P06280
Residue number A
142
Residue number B
172
Peptide name
Alpha-galactosidase A
A redox-regulated disulphide may form within Alpha-galactosidase A at these cysteines.

Relevent regions

In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
2.7955484
seq distance
0
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
2.7955484
seq distance
0
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
2.805996
seq distance
0
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
2.805996
seq distance
0
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
2.805996
seq distance
0
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
2.805996
seq distance
0
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
4.618291
seq distance
1
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
4.618291
seq distance
1
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
5.0460806
seq distance
4
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
5.0460806
seq distance
4
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
5.0460806
seq distance
4
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
5.0460806
seq distance
4
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
5.0460806
seq distance
4
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
5.0460806
seq distance
4
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
5.863186
seq distance
3
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
5.863186
seq distance
3
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
6.1438537
seq distance
2
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
6.1438537
seq distance
2
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
6.20321
seq distance
1
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
6.20321
seq distance
1
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
6.20321
seq distance
1
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
6.20321
seq distance
1
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
7.4946094
seq distance
170
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
7.4946094
seq distance
170
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
8.299316
seq distance
15
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
8.299316
seq distance
15
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
8.299316
seq distance
15
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
8.299316
seq distance
15
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
8.540893
seq distance
38
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
8.540893
seq distance
38
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
8.54659
seq distance
3
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
8.54659
seq distance
3
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
8.54659
seq distance
3
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
8.54659
seq distance
3
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
8.57137
seq distance
4
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
8.57137
seq distance
4
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
8.57137
seq distance
4
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
8.57137
seq distance
4
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
8.574438
seq distance
35
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
8.574438
seq distance
35
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
8.680025
seq distance
32
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
8.680025
seq distance
32
chain
B
Nucleophile
position
170
score
100.0
distance
8.680025
seq distance
32
chain
B
Nucleophile
position
170
score
100.0
distance
8.680025
seq distance
32
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
9.448466
seq distance
7
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
9.448466
seq distance
7
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
9.626638
seq distance
19
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
9.626638
seq distance
19
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
9.85005
seq distance
39
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
9.85005
seq distance
39
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
10.0750265
seq distance
31
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
10.0750265
seq distance
31
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
10.409801
seq distance
40
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
10.409801
seq distance
40
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
10.695645
seq distance
41
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
10.695645
seq distance
41
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
10.695645
seq distance
41
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
10.695645
seq distance
41
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
10.767085
seq distance
37
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
10.767085
seq distance
37
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
10.7936125
seq distance
22
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
10.7936125
seq distance
22
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
10.844579
seq distance
36
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
10.844579
seq distance
36
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
11.127963
seq distance
8
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
11.127963
seq distance
8
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
11.145352
seq distance
5
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
11.145352
seq distance
5
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
11.173427
seq distance
169
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
11.173427
seq distance
169
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
11.21039
seq distance
67
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
11.21039
seq distance
67
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
11.289885
seq distance
4
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
11.289885
seq distance
4
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
11.449187
seq distance
9
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
11.449187
seq distance
9
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
11.706877
seq distance
68
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
11.706877
seq distance
68
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
11.858648
seq distance
168
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
11.858648
seq distance
168
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
12.8353195
seq distance
166
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
12.8353195
seq distance
166
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
13.041261
seq distance
46
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
13.041261
seq distance
46
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
13.041261
seq distance
46
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
13.041261
seq distance
46
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
13.555589
seq distance
64
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
13.555589
seq distance
64
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
13.598842
seq distance
54
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
13.598842
seq distance
54
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
13.598842
seq distance
54
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
13.598842
seq distance
54
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
13.755051
seq distance
35
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
13.755051
seq distance
35
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
13.801731
seq distance
30
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
13.801731
seq distance
30
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
13.801731
seq distance
30
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
13.801731
seq distance
30
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
13.851649
seq distance
43
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
13.851649
seq distance
43
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
13.851649
seq distance
43
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
13.851649
seq distance
43
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
13.851649
seq distance
43
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
13.851649
seq distance
43
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
13.959439
seq distance
36
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
13.959439
seq distance
36
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
13.959439
seq distance
36
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
13.959439
seq distance
36
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
13.984416
seq distance
42
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
13.984416
seq distance
42
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
14.049894
seq distance
30
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
14.049894
seq distance
30
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
14.159152
seq distance
37
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
14.159152
seq distance
37
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
14.201467
seq distance
162
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
14.201467
seq distance
162
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
14.201467
seq distance
162
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
14.201467
seq distance
162
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
14.365557
seq distance
167
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
14.365557
seq distance
167
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
14.365557
seq distance
167
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
14.365557
seq distance
167
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
14.786004
seq distance
110
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
14.786004
seq distance
110
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
14.786004
seq distance
110
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
14.786004
seq distance
110
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
15.1355095
seq distance
10
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
15.1355095
seq distance
10
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
15.608551
seq distance
38
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
15.608551
seq distance
38
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
15.608551
seq distance
38
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
15.608551
seq distance
38
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
15.861213
seq distance
7
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
15.861213
seq distance
7
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
15.974903
seq distance
109
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
15.974903
seq distance
109
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
15.974903
seq distance
109
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
15.974903
seq distance
109
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
15.979426
seq distance
6
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
15.979426
seq distance
6
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
16.03646
seq distance
8
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
16.03646
seq distance
8
chain
B
Proton donor
position
231
score
100.0
distance
16.03646
seq distance
8
chain
B
Proton donor
position
231
score
100.0
distance
16.03646
seq distance
8
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
16.11133
seq distance
60
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
16.11133
seq distance
60
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
16.11133
seq distance
60
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
16.11133
seq distance
60
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
16.17813
seq distance
31
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
16.17813
seq distance
31
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
16.217155
seq distance
44
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
16.217155
seq distance
44
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
16.229244
seq distance
111
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
16.229244
seq distance
111
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
16.229244
seq distance
111
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
16.229244
seq distance
111
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
16.46884
seq distance
156
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
16.46884
seq distance
157
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
16.46884
seq distance
156
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
16.46884
seq distance
157
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
16.548325
seq distance
160
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
16.548325
seq distance
160
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
16.548325
seq distance
160
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
16.548325
seq distance
160
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
16.548325
seq distance
160
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
16.548325
seq distance
160
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
16.888035
seq distance
71
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
16.888035
seq distance
71
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
17.293612
seq distance
159
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
17.293612
seq distance
159
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
17.417908
seq distance
48
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
17.417908
seq distance
48
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
17.759483
seq distance
104
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
17.759483
seq distance
104
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
17.759483
seq distance
104
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
17.759483
seq distance
104
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
17.759483
seq distance
104
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
17.759483
seq distance
104
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
17.821167
seq distance
155
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
17.821167
seq distance
155
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
17.821167
seq distance
155
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
17.821167
seq distance
155
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
18.201267
seq distance
113
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
18.201267
seq distance
113
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
18.201267
seq distance
113
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
18.201267
seq distance
113
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
18.550194
seq distance
56
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
18.550194
seq distance
56
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
18.815538
seq distance
26
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
18.815538
seq distance
26
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
18.920345
seq distance
156
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
18.920345
seq distance
156
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
18.920345
seq distance
156
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
18.920345
seq distance
156
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
18.920345
seq distance
156
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
18.920345
seq distance
156
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
18.984436
seq distance
39
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
18.984436
seq distance
39
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
19.12874
seq distance
59
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
19.12874
seq distance
59
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
19.12874
seq distance
59
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
19.12874
seq distance
59
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
19.453823
seq distance
73
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
19.453823
seq distance
73
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
19.453823
seq distance
73
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
19.453823
seq distance
73
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
19.501081
seq distance
108
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
19.501081
seq distance
108
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
19.501081
seq distance
108
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
19.501081
seq distance
108
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
19.503513
seq distance
19
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
19.503513
seq distance
19
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
19.503513
seq distance
19
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
19.503513
seq distance
19
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
19.685413
seq distance
64
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
19.685413
seq distance
64
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
19.685413
seq distance
64
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
19.685413
seq distance
64
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
19.834217
seq distance
154
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
19.834217
seq distance
154
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
19.853765
seq distance
107
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
19.853765
seq distance
107
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
20.00628
seq distance
40
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
20.00628
seq distance
40
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
20.00628
seq distance
40
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
20.00628
seq distance
40
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
20.053701
seq distance
74
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
20.053701
seq distance
74
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
20.223091
seq distance
58
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
20.223091
seq distance
58
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
20.413824
seq distance
93
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
20.413824
seq distance
98
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
20.413824
seq distance
93
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
20.413824
seq distance
98
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
20.648724
seq distance
116
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
20.648724
seq distance
116
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
20.648724
seq distance
116
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
20.648724
seq distance
116
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
20.665575
seq distance
97
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
20.665575
seq distance
97
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
20.665575
seq distance
97
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
20.665575
seq distance
97
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
20.944042
seq distance
105
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
20.944042
seq distance
105
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
20.944042
seq distance
105
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
20.944042
seq distance
105
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
20.944042
seq distance
105
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
20.944042
seq distance
105
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
21.376772
seq distance
100
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
21.376772
seq distance
100
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
21.40512
seq distance
65
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
21.40512
seq distance
65
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
21.613155
seq distance
20
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
21.613155
seq distance
20
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
21.624092
seq distance
85
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
21.624092
seq distance
85
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
21.656347
seq distance
24
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
21.656347
seq distance
24
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
21.656347
seq distance
24
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
21.656347
seq distance
24
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
21.664267
seq distance
81
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
21.664267
seq distance
81
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
21.664267
seq distance
81
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
21.664267
seq distance
81
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
21.794758
seq distance
66
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
21.794758
seq distance
66
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
21.794758
seq distance
66
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
21.794758
seq distance
66
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
22.183367
seq distance
150
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
22.183367
seq distance
150
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
22.183367
seq distance
150
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
22.183367
seq distance
150
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
22.211668
seq distance
46
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
22.211668
seq distance
46
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
22.211668
seq distance
46
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
22.211668
seq distance
46
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
22.384916
seq distance
117
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
22.384916
seq distance
117
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
22.965601
seq distance
153
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
22.965601
seq distance
153
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
22.965601
seq distance
153
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
22.965601
seq distance
153
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
22.965601
seq distance
153
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
22.965601
seq distance
153
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.138237
seq distance
21
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.138237
seq distance
21
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.138237
seq distance
21
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.138237
seq distance
21
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
23.201494
seq distance
102
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
23.201494
seq distance
102
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
23.201494
seq distance
102
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
23.201494
seq distance
102
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
23.693499
seq distance
105
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
23.693499
seq distance
105
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
23.794533
seq distance
75
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
23.794533
seq distance
75
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
23.794533
seq distance
75
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
23.794533
seq distance
75
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
23.794533
seq distance
75
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
23.794533
seq distance
75
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
23.816387
seq distance
82
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
23.816387
seq distance
82
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
23.902239
seq distance
94
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
23.902239
seq distance
94
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
23.959188
seq distance
138
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
23.959188
seq distance
138
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
23.964626
seq distance
61
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
23.964626
seq distance
61
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
24.009058
seq distance
119
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
24.009058
seq distance
119
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
24.009058
seq distance
119
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
24.009058
seq distance
119
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
24.774137
seq distance
11
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
24.774137
seq distance
11
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
24.961502
seq distance
107
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
24.961502
seq distance
107
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
25.083242
seq distance
74
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
25.083242
seq distance
74
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
25.09593
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
25.09593
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
25.09593
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
25.09593
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
25.35907
seq distance
62
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
25.35907
seq distance
62
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
25.545696
seq distance
136
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
25.545696
seq distance
136
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
25.62705
seq distance
130
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
25.62705
seq distance
130
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
25.65077
seq distance
137
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
25.65077
seq distance
137
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
26.026861
seq distance
89
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
26.026861
seq distance
89
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
26.026861
seq distance
89
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
26.026861
seq distance
89
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
26.026861
seq distance
89
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
26.026861
seq distance
89
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
26.304846
seq distance
118
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
26.304846
seq distance
118
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
26.409548
seq distance
12
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
26.409548
seq distance
12
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
26.51379
seq distance
93
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
26.51379
seq distance
93
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
26.51379
seq distance
93
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
26.51379
seq distance
93
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
26.626333
seq distance
117
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
26.626333
seq distance
117
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
27.358393
seq distance
13
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
27.358393
seq distance
13
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
27.358393
seq distance
13
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
27.358393
seq distance
13
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
27.426357
seq distance
77
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
27.426357
seq distance
77
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
27.560858
seq distance
90
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
27.560858
seq distance
90
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
27.560858
seq distance
90
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
27.560858
seq distance
90
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
27.560858
seq distance
90
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
27.560858
seq distance
90
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
27.725647
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
27.725647
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
27.725647
seq distance
False
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
27.725647
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
27.725647
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
27.725647
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
27.733358
seq distance
49
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
27.733358
seq distance
49
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
27.733358
seq distance
49
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
27.733358
seq distance
49
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
27.755564
seq distance
57
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
27.755564
seq distance
57
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
28.15709
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
28.15709
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
28.534807
seq distance
131
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
28.534807
seq distance
131
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
28.71296
seq distance
90
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
28.71296
seq distance
90
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
28.71296
seq distance
90
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
28.71296
seq distance
90
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
28.83125
seq distance
129
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
28.83125
seq distance
129
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
29.16272
seq distance
92
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
29.16272
seq distance
92
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
29.301172
seq distance
56
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
29.301172
seq distance
56
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
29.301172
seq distance
56
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
29.301172
seq distance
56
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
29.4707
seq distance
122
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
29.4707
seq distance
122
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
30.371452
seq distance
115
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
30.371452
seq distance
115
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
30.65912
seq distance
191
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
30.65912
seq distance
191
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
30.659363
seq distance
150
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
30.659363
seq distance
150
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
30.659363
seq distance
150
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
30.659363
seq distance
150
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
30.707624
seq distance
78
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
30.707624
seq distance
78
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
31.278008
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
31.278008
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
31.278008
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
31.278008
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
31.30501
seq distance
86
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
31.30501
seq distance
86
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
31.427431
seq distance
146
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
31.427431
seq distance
146
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
31.427431
seq distance
146
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
31.427431
seq distance
146
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
31.427431
seq distance
146
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
31.427431
seq distance
146
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
32.320858
seq distance
142
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
32.320858
seq distance
142
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
32.492157
seq distance
53
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
32.492157
seq distance
53
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
32.506725
seq distance
187
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
32.506725
seq distance
187
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
32.682026
seq distance
143
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
32.682026
seq distance
143
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
32.695393
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
32.695393
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
32.892654
seq distance
133
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
32.892654
seq distance
133
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
32.892654
seq distance
133
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
32.892654
seq distance
133
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
32.892654
seq distance
133
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
32.892654
seq distance
133
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
33.3741
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
33.3741
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
33.3741
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
33.3741
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
33.3741
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
33.3741
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
33.51345
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
33.51345
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
33.68935
seq distance
154
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
33.68935
seq distance
154
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
34.266384
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
34.266384
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
35.054207
seq distance
152
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
35.054207
seq distance
152
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
35.106598
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
35.106598
seq distance
False
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
35.106598
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
35.106598
seq distance
False
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
36.15862
seq distance
False
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
36.15862
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
36.29018
seq distance
186
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
36.29018
seq distance
186
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
36.29018
seq distance
186
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
36.29018
seq distance
186
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
36.65266
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
36.65266
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
36.65266
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
36.65266
seq distance
False
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
36.68773
seq distance
135
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
36.68773
seq distance
135
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
36.68773
seq distance
135
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
36.68773
seq distance
135
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
36.68773
seq distance
135
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
36.68773
seq distance
135
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
37.417583
seq distance
155
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
37.417583
seq distance
155
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
38.92659
seq distance
160
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
38.92659
seq distance
160
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
38.994244
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
38.994244
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
39.479378
seq distance
169
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
39.479378
seq distance
169
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
39.870228
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
39.870228
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
40.175323
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
40.175323
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
41.15554
seq distance
140
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
41.15554
seq distance
140
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
41.218624
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
41.218624
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
41.218624
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
41.218624
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
41.25583
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
41.25583
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
41.25583
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
41.25583
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
41.713387
seq distance
181
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
41.713387
seq distance
181
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
41.729073
seq distance
176
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
41.729073
seq distance
176
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
42.41494
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
42.41494
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
42.650414
seq distance
138
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
42.650414
seq distance
138
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
42.797802
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
42.797802
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
42.797802
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
42.797802
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
42.811104
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
42.811104
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
43.01587
seq distance
173
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
43.01587
seq distance
173
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
43.103138
seq distance
137
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
43.103138
seq distance
137
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
43.103138
seq distance
137
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
43.103138
seq distance
137
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
43.69424
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
43.69424
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
43.69424
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
43.69424
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
44.935383
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
44.935383
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
45.39153
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
45.39153
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
45.569252
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
45.569252
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
45.594044
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
45.594044
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
45.59921
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
45.59921
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
45.59921
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
45.59921
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
45.794888
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
45.794888
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
45.794888
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
45.794888
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
45.799892
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
45.799892
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
45.99702
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
45.99702
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
45.99702
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
45.99702
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
45.99702
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
45.99702
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
46.27974
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
46.27974
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
46.281784
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
46.281784
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
46.567043
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
46.567043
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
47.05897
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
47.05897
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
47.05897
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
47.05897
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
47.05897
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
47.05897
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
47.99925
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
47.99925
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
47.99925
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
47.99925
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
48.16019
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
48.16019
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
48.344612
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
48.344612
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
48.41688
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
48.41688
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
48.48318
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
48.48318
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
48.59746
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
48.59746
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
48.636562
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
48.636562
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
48.636562
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
48.636562
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
48.636562
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
48.636562
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
49.07966
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
49.07966
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
49.792347
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
49.792347
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
49.810177
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
49.810177
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
49.810177
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
49.810177
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
49.893093
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
49.893093
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
49.893093
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
49.893093
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
49.977943
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
49.977943
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
49.977943
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
49.977943
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
50.292854
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
50.292854
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
50.6734
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
50.6734
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
50.78394
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
50.78394
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
51.059975
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
51.059975
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
51.059975
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
51.059975
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
51.101982
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
51.101982
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
51.101982
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
51.101982
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
51.178913
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
51.178913
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
51.238293
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
51.238293
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
51.269062
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
51.269062
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
51.269062
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
51.269062
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
51.269062
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
51.269062
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
51.907818
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
51.907818
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
51.907818
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
51.907818
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
51.907818
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
51.907818
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
51.907818
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
51.907818
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
51.99123
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
51.99123
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
51.99123
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
51.99123
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
51.99123
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
51.99123
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
52.431957
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
52.431957
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
52.434692
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
52.434692
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
52.434692
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
52.434692
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
52.943172
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
52.943172
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
52.943172
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
52.943172
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
52.958244
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
52.958244
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
52.958244
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
52.958244
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
53.210423
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
53.210423
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
53.711205
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
53.711205
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
53.7166
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
53.7166
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
53.80731
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
53.80731
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
53.80731
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
53.80731
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
54.074936
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
54.074936
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
54.074936
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
54.074936
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
54.092194
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
54.092194
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
54.092194
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
54.092194
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
54.290195
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
54.290195
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
54.390965
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
54.390965
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
54.390965
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
54.390965
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
54.485947
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
54.485947
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
54.5666
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
54.5666
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
54.716743
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
54.716743
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
54.834736
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
54.834736
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
54.834736
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
54.834736
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
54.834736
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
54.834736
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
55.08885
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
55.08885
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
55.20415
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
55.20415
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
55.38203
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
55.38203
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
55.38203
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
55.38203
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
55.38203
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
55.38203
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
55.514473
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
55.514473
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
55.514473
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
55.514473
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
55.557957
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
55.557957
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
55.557957
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
55.557957
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
55.595715
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
55.595715
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
55.797516
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
55.797516
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
55.960567
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
55.960567
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
55.960567
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
55.960567
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
56.001183
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
56.001183
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
56.063057
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
56.063057
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
56.16557
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
56.16557
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
56.23489
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
56.23489
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
56.366917
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
56.366917
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
56.380894
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
56.380894
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
56.380894
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
56.380894
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
56.448036
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
56.448036
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
56.578777
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
56.578777
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
56.578777
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
56.578777
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
56.578777
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
56.578777
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
56.65558
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
56.65558
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
56.839645
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
56.839645
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
56.924034
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
56.924034
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
57.014168
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
57.014168
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
57.065956
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
57.065956
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
57.065956
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
57.065956
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
57.287914
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
57.287914
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
57.287914
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
57.287914
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
57.369686
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
57.369686
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
57.530754
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
57.530754
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
57.690224
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
57.690224
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
57.690224
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
57.690224
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
57.750473
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
57.750473
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
57.75923
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
57.75923
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
57.779232
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
57.779232
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
57.87531
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
57.87531
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
57.921295
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
57.921295
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
57.921295
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
57.921295
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
58.325756
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
58.325756
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
58.743134
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
58.743134
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
58.743134
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
58.743134
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
58.791603
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
58.791603
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
58.791603
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
58.791603
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
58.82504
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
58.82504
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
59.432163
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
59.432163
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
59.46423
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
59.46423
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
59.70586
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
59.70586
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
60.00881
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
60.00881
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
60.837433
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
60.837433
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
61.064842
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
61.064842
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
61.191574
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
61.191574
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
61.20041
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
61.20041
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
61.20041
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
61.20041
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
61.20041
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
61.20041
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
61.20041
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
61.20041
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
61.22426
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
61.22426
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
61.313557
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
61.313557
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
61.710423
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
61.710423
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
62.16073
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
62.16073
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
62.16073
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
62.16073
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
62.16073
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
62.16073
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
62.1794
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
62.1794
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
62.1794
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
62.1794
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
62.24222
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
62.24222
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
62.365005
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
62.365005
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
62.71251
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
62.71251
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
63.045544
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
63.045544
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
63.112793
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
63.112793
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
63.310085
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
63.310085
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
63.385826
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
63.385826
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
63.431602
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
63.431602
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
63.431602
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
63.431602
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
63.741505
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
63.741505
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
63.741505
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
63.741505
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
63.741505
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
63.741505
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
63.779263
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
63.779263
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
64.143524
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
64.143524
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
65.68407
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
65.68407
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
65.68407
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
65.68407
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
66.10918
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
66.10918
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
66.23161
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
66.23161
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
66.4448
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
66.4448
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
66.4448
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
66.4448
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
66.479225
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
66.479225
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
66.69189
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
66.69189
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
66.96226
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
66.96226
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
67.3402
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
67.3402
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
67.3402
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
67.3402
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
67.480835
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
67.480835
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
67.49533
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
67.49533
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
68.16413
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
68.16413
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
68.16413
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
68.16413
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
69.19582
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
69.19582
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
69.19582
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
69.19582
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
69.69695
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
69.69695
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
70.00969
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
70.00969
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
70.00969
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
70.00969
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
70.2846
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
70.2846
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
70.44659
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
70.44659
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
70.44659
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
70.44659
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
70.74159
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
70.74159
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
71.12017
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
71.12017
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
71.12017
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
71.12017
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
73.343575
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
73.343575
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
73.401886
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
73.401886
seq distance
False
chain
A

Details

Redox score
74.05
PDB code
3hg2
Structure name
human alpha-galactosidase catalytic mechanism 1. empty active site
Structure deposition date
2009-05-13
Thiol separation (Å)
2.04
Half-sphere exposure sum
92
Minimum pKa
nan
% buried
nan
Peptide accession
P06280
Residue number A
202
Residue number B
223
Peptide name
Alpha-galactosidase A
A redox-regulated disulphide may form within Alpha-galactosidase A at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
2.8567712
seq distance
0
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
2.8567712
seq distance
0
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
2.8567712
seq distance
0
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
2.8567712
seq distance
0
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
3.575507
seq distance
30
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
3.575507
seq distance
30
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
3.575507
seq distance
30
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
3.575507
seq distance
30
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
4.1545906
seq distance
6
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
4.1545906
seq distance
6
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
5.2731094
seq distance
1
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
5.2731094
seq distance
1
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
5.3274393
seq distance
34
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
5.3274393
seq distance
34
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
6.5420165
seq distance
2
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
6.5420165
seq distance
2
chain
B
Nucleophile
position
170
score
100.0
distance
6.5420165
seq distance
2
chain
B
Nucleophile
position
170
score
100.0
distance
6.5420165
seq distance
2
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
7.329996
seq distance
29
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
7.329996
seq distance
29
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
7.329996
seq distance
29
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
7.329996
seq distance
29
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
7.928987
seq distance
9
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
7.928987
seq distance
9
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
7.936233
seq distance
31
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
7.936233
seq distance
31
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
8.572698
seq distance
28
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
8.572698
seq distance
28
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
9.309046
seq distance
30
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
9.309046
seq distance
30
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
9.890779
seq distance
79
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
9.890779
seq distance
79
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
9.890779
seq distance
79
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
9.890779
seq distance
79
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
10.651785
seq distance
37
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
10.651785
seq distance
37
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
10.916928
seq distance
57
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
10.916928
seq distance
57
chain
B
Proton donor
position
231
score
100.0
distance
10.916928
seq distance
57
chain
B
Proton donor
position
231
score
100.0
distance
10.916928
seq distance
57
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
10.9185295
seq distance
24
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
10.9185295
seq distance
24
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
10.9185295
seq distance
24
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
10.9185295
seq distance
24
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
11.078051
seq distance
56
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
11.078051
seq distance
56
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
11.546134
seq distance
31
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
11.546134
seq distance
31
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
11.852026
seq distance
38
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
11.852026
seq distance
38
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
11.94727
seq distance
26
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
11.94727
seq distance
26
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
12.162891
seq distance
80
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
12.162891
seq distance
80
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
12.162891
seq distance
80
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
12.162891
seq distance
80
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
12.221504
seq distance
78
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
12.221504
seq distance
78
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
12.221504
seq distance
78
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
12.221504
seq distance
78
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
12.4029045
seq distance
28
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
12.4029045
seq distance
28
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
12.4029045
seq distance
28
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
12.4029045
seq distance
28
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
12.58031
seq distance
53
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
12.58031
seq distance
53
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
12.58031
seq distance
53
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
12.58031
seq distance
53
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
13.173464
seq distance
120
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
13.173464
seq distance
120
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
13.173464
seq distance
120
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
13.173464
seq distance
120
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
13.240295
seq distance
13
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
13.240295
seq distance
13
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
13.240295
seq distance
13
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
13.240295
seq distance
13
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
13.313881
seq distance
125
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
13.313881
seq distance
125
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
13.313881
seq distance
125
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
13.313881
seq distance
125
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
13.935529
seq distance
54
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
13.935529
seq distance
54
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
14.203232
seq distance
40
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
14.203232
seq distance
40
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
14.694952
seq distance
52
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
14.694952
seq distance
52
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
14.705318
seq distance
27
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
14.705318
seq distance
27
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
14.942143
seq distance
124
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
14.942143
seq distance
124
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
15.105972
seq distance
77
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
15.105972
seq distance
77
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
15.274997
seq distance
45
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
15.274997
seq distance
45
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
15.274997
seq distance
45
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
15.274997
seq distance
45
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
15.274997
seq distance
45
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
15.274997
seq distance
45
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
15.30881
seq distance
92
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
15.30881
seq distance
92
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
15.30881
seq distance
92
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
15.30881
seq distance
92
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
15.30881
seq distance
92
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
15.30881
seq distance
92
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
15.43964
seq distance
5
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
15.43964
seq distance
5
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
15.800825
seq distance
39
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
15.800825
seq distance
39
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
15.824933
seq distance
81
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
15.824933
seq distance
81
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
15.824933
seq distance
81
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
15.824933
seq distance
81
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
16.458467
seq distance
41
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
16.458467
seq distance
41
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
16.486742
seq distance
126
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
16.486742
seq distance
126
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
16.486742
seq distance
126
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
16.486742
seq distance
126
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
16.486742
seq distance
126
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
16.486742
seq distance
126
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
16.486742
seq distance
126
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
16.486742
seq distance
126
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
16.72148
seq distance
91
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
16.72148
seq distance
91
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
16.803644
seq distance
127
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
16.803644
seq distance
127
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
16.81982
seq distance
49
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
16.81982
seq distance
49
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
16.887445
seq distance
90
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
16.887445
seq distance
90
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
16.887445
seq distance
90
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
16.887445
seq distance
90
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
16.937325
seq distance
93
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
16.937325
seq distance
93
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
17.405838
seq distance
75
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
17.405838
seq distance
75
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
17.497967
seq distance
42
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
17.497967
seq distance
42
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
17.581919
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
17.581919
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
17.581919
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
17.581919
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
18.118486
seq distance
123
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
18.118486
seq distance
123
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
18.118486
seq distance
123
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
18.118486
seq distance
123
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
18.118486
seq distance
123
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
18.118486
seq distance
123
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
18.283674
seq distance
16
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
18.283674
seq distance
16
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
18.283674
seq distance
16
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
18.283674
seq distance
16
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
18.706781
seq distance
108
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
18.706781
seq distance
108
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
18.851423
seq distance
6
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
18.851423
seq distance
6
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
18.915089
seq distance
18
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
18.915089
seq distance
18
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
18.930391
seq distance
68
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
18.930391
seq distance
68
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
18.930391
seq distance
68
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
18.930391
seq distance
68
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
19.040112
seq distance
123
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
19.040112
seq distance
123
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
19.136984
seq distance
89
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
19.136984
seq distance
89
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
19.30146
seq distance
72
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
19.30146
seq distance
72
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
19.30146
seq distance
72
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
19.30146
seq distance
72
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
19.831404
seq distance
50
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
19.831404
seq distance
50
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
19.831404
seq distance
50
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
19.831404
seq distance
50
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
19.867804
seq distance
60
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
19.867804
seq distance
60
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
20.131866
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
20.131866
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
20.131866
seq distance
False
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
20.131866
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
20.131866
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
20.131866
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
20.592955
seq distance
95
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
20.592955
seq distance
95
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
20.592955
seq distance
95
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
20.592955
seq distance
95
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
20.736183
seq distance
140
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
20.736183
seq distance
140
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
20.888344
seq distance
122
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
20.888344
seq distance
122
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
20.888344
seq distance
122
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
20.888344
seq distance
122
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
20.95275
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
20.95275
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
21.104574
seq distance
88
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
21.104574
seq distance
88
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
21.378511
seq distance
107
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
21.378511
seq distance
107
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
21.563759
seq distance
61
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
21.563759
seq distance
61
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
21.579355
seq distance
83
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
21.579355
seq distance
83
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
21.579355
seq distance
83
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
21.579355
seq distance
83
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
21.616789
seq distance
87
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
21.616789
seq distance
87
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
21.93328
seq distance
8
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
21.93328
seq distance
8
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
21.93328
seq distance
8
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
21.93328
seq distance
8
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
21.955875
seq distance
24
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
21.955875
seq distance
24
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
21.96011
seq distance
124
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
21.96011
seq distance
124
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
21.96011
seq distance
124
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
21.96011
seq distance
124
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
21.96011
seq distance
124
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
21.96011
seq distance
124
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
21.977842
seq distance
79
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
21.977842
seq distance
79
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
21.99659
seq distance
41
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
21.99659
seq distance
41
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
22.154394
seq distance
129
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
22.154394
seq distance
129
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
22.285627
seq distance
7
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
22.285627
seq distance
7
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
22.334623
seq distance
55
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
22.334623
seq distance
60
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
22.334623
seq distance
60
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
22.334623
seq distance
60
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
22.334623
seq distance
55
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
22.334623
seq distance
60
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
22.334623
seq distance
60
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
22.334623
seq distance
60
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
22.471024
seq distance
69
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
22.471024
seq distance
69
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
22.73034
seq distance
59
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
22.73034
seq distance
59
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
22.73034
seq distance
59
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
22.73034
seq distance
59
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
22.73034
seq distance
59
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
22.73034
seq distance
59
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
23.195154
seq distance
106
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
23.195154
seq distance
106
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
23.360655
seq distance
75
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
23.360655
seq distance
75
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.466835
seq distance
70
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.466835
seq distance
70
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.466835
seq distance
70
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.466835
seq distance
70
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
23.628462
seq distance
130
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
23.628462
seq distance
130
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
23.628462
seq distance
130
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
23.628462
seq distance
130
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
23.628462
seq distance
130
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
23.628462
seq distance
130
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
23.675402
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
23.675402
seq distance
False
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
23.824404
seq distance
62
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
23.824404
seq distance
62
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
23.824404
seq distance
62
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
23.824404
seq distance
62
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
24.009838
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
24.009838
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
24.009838
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
24.009838
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
24.057673
seq distance
116
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
24.057673
seq distance
116
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
24.057673
seq distance
116
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
24.057673
seq distance
116
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
24.057673
seq distance
116
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
24.057673
seq distance
116
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
24.096886
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
24.096886
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
24.096886
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
24.096886
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
24.096886
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
24.096886
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
24.21851
seq distance
86
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
24.21851
seq distance
86
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
24.28537
seq distance
98
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
24.28537
seq distance
98
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
24.28537
seq distance
98
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
24.28537
seq distance
98
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
24.300297
seq distance
10
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
24.300297
seq distance
10
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
24.300297
seq distance
10
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
24.300297
seq distance
10
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
24.373264
seq distance
139
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
24.373264
seq distance
139
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
24.405058
seq distance
113
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
24.405058
seq distance
113
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
24.405058
seq distance
113
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
24.405058
seq distance
113
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
24.453827
seq distance
132
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
24.453827
seq distance
132
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
24.453827
seq distance
132
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
24.453827
seq distance
132
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
24.849514
seq distance
113
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
24.849514
seq distance
113
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
24.86292
seq distance
138
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
24.86292
seq distance
138
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
24.952812
seq distance
73
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
24.952812
seq distance
73
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
24.952812
seq distance
73
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
24.952812
seq distance
73
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
25.19095
seq distance
9
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
25.19095
seq distance
9
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
25.2435
seq distance
112
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
25.2435
seq distance
112
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
25.270502
seq distance
80
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
25.270502
seq distance
80
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
25.435738
seq distance
51
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
25.435738
seq distance
51
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
25.435738
seq distance
51
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
25.435738
seq distance
51
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
25.739893
seq distance
22
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
25.739893
seq distance
22
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
25.815739
seq distance
52
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
25.815739
seq distance
52
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
25.88374
seq distance
100
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
25.88374
seq distance
100
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
25.968637
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
25.968637
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
26.001514
seq distance
136
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
26.001514
seq distance
136
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
26.430187
seq distance
86
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
26.430187
seq distance
86
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
26.430187
seq distance
86
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
26.430187
seq distance
86
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
26.624756
seq distance
84
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
26.624756
seq distance
84
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
26.85175
seq distance
110
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
26.85175
seq distance
110
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
27.028736
seq distance
126
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
27.028736
seq distance
126
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
27.179253
seq distance
85
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
27.179253
seq distance
85
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
27.179253
seq distance
85
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
27.179253
seq distance
85
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
27.608143
seq distance
153
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
27.608143
seq distance
153
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
27.608143
seq distance
153
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
27.608143
seq distance
153
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
27.608143
seq distance
153
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
27.608143
seq distance
153
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
27.62023
seq distance
114
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
27.62023
seq distance
114
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
27.668848
seq distance
106
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
27.668848
seq distance
106
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
27.884462
seq distance
137
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
27.884462
seq distance
137
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
27.884462
seq distance
137
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
27.884462
seq distance
137
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
27.988134
seq distance
101
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
27.988134
seq distance
101
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
28.497946
seq distance
115
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
28.497946
seq distance
115
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
28.497946
seq distance
115
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
28.497946
seq distance
115
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
28.788488
seq distance
105
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
28.788488
seq distance
105
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
28.788488
seq distance
105
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
28.788488
seq distance
105
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
28.841763
seq distance
142
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
28.841763
seq distance
146
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
28.841763
seq distance
146
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
28.841763
seq distance
142
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
28.841763
seq distance
146
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
28.841763
seq distance
146
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
29.0399
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
29.0399
seq distance
False
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
29.0399
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
29.0399
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
29.237514
seq distance
127
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
29.237514
seq distance
127
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
29.363432
seq distance
154
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
29.363432
seq distance
154
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
29.363432
seq distance
154
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
29.363432
seq distance
154
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
29.363432
seq distance
154
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
29.363432
seq distance
154
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
29.370653
seq distance
111
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
29.370653
seq distance
111
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
29.604322
seq distance
87
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
29.604322
seq distance
87
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
29.60702
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
29.60702
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
29.861078
seq distance
147
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
29.861078
seq distance
147
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
29.91226
seq distance
102
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
29.91226
seq distance
102
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
30.203745
seq distance
156
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
30.203745
seq distance
156
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
30.580338
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
30.580338
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
30.681938
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
30.681938
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
30.681938
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
30.681938
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
30.746336
seq distance
143
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
30.746336
seq distance
143
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
31.219582
seq distance
False
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
31.219582
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
31.369347
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
31.369347
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
31.369347
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
31.369347
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
31.486174
seq distance
236
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
31.486174
seq distance
236
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
31.507807
seq distance
44
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
31.507807
seq distance
44
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
32.076267
seq distance
182
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
32.076267
seq distance
182
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
32.076267
seq distance
182
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
32.076267
seq distance
182
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
32.076267
seq distance
182
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
32.076267
seq distance
182
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
32.09951
seq distance
166
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
32.09951
seq distance
166
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
32.620636
seq distance
168
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
32.620636
seq distance
168
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
32.620636
seq distance
168
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
32.620636
seq distance
168
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
32.792618
seq distance
142
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
32.792618
seq distance
142
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
32.792618
seq distance
142
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
32.792618
seq distance
142
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
33.0126
seq distance
164
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
33.0126
seq distance
164
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
33.102264
seq distance
149
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
33.102264
seq distance
149
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
33.190014
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
33.190014
seq distance
False
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
33.287254
seq distance
184
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
33.287254
seq distance
184
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
33.287254
seq distance
184
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
33.287254
seq distance
184
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
33.287254
seq distance
184
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
33.287254
seq distance
184
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
33.45737
seq distance
167
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
33.45737
seq distance
167
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
33.52213
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
33.52213
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
33.523922
seq distance
178
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
33.523922
seq distance
178
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
33.779545
seq distance
92
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
33.779545
seq distance
92
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
33.830418
seq distance
139
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
33.830418
seq distance
139
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
33.830418
seq distance
139
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
33.830418
seq distance
139
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
34.072384
seq distance
135
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
34.072384
seq distance
135
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
34.369934
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
34.369934
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
34.369934
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
34.369934
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
34.448723
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
34.448723
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
34.86305
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
34.86305
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
35.14982
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
35.14982
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
35.14982
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
35.14982
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
35.200226
seq distance
235
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
35.200226
seq distance
235
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
35.200226
seq distance
235
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
35.200226
seq distance
235
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
35.293377
seq distance
240
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
35.293377
seq distance
240
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
35.71842
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
35.71842
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
35.804733
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
35.804733
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
36.050163
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
36.050163
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
36.133385
seq distance
141
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
36.133385
seq distance
141
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
37.58915
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
37.58915
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
38.103004
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
38.103004
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
38.51022
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
38.51022
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
38.51022
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
38.51022
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
38.58366
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
38.58366
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
38.895184
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
38.895184
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
38.895184
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
38.895184
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
38.93309
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
38.93309
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
39.137062
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
39.137062
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
39.633404
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
39.633404
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
39.63755
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
39.63755
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
39.63755
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
39.63755
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
40.344566
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
40.344566
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
40.344566
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
40.344566
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
40.351177
seq distance
186
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
40.351177
seq distance
186
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
40.351177
seq distance
186
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
40.351177
seq distance
186
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
40.45607
seq distance
199
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
40.45607
seq distance
199
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
40.45607
seq distance
199
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
40.45607
seq distance
199
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
40.937485
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
40.937485
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
41.031647
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
41.031647
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
41.031647
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
41.031647
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
41.437485
seq distance
187
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
41.437485
seq distance
187
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
41.704926
seq distance
189
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
41.704926
seq distance
189
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
41.81253
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
41.81253
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
41.81253
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
41.81253
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
41.81253
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
41.81253
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
41.897614
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
41.897614
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
42.143867
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
42.143867
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
42.271557
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
42.271557
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
42.271557
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
42.271557
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
42.271557
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
42.271557
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
42.3392
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
42.3392
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
42.59354
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
42.59354
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
42.7314
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
42.7314
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
43.060345
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
43.060345
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
43.060345
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
43.060345
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
43.060345
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
43.060345
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
43.115356
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
43.115356
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
43.115356
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
43.115356
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
43.412563
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
43.412563
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
43.412563
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
43.412563
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
43.780575
seq distance
203
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
43.780575
seq distance
203
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
43.81093
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
43.81093
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
43.81093
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
43.81093
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
43.81093
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
43.81093
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
43.939728
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
43.939728
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
44.140724
seq distance
218
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
44.140724
seq distance
218
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
44.15276
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
44.15276
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
44.257694
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
44.257694
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
44.347374
seq distance
201
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
44.347374
seq distance
201
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
44.543545
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
44.543545
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
44.594357
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
44.594357
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
44.62379
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
44.62379
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
44.62379
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
44.62379
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
44.62379
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
44.62379
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
44.67655
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
44.67655
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
44.67655
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
44.67655
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
45.02241
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
45.02241
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
45.02241
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
45.02241
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
45.187073
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
45.187073
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
45.22715
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
45.22715
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
45.22715
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
45.22715
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
45.323734
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
45.323734
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
45.352066
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
45.352066
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
45.352066
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
45.352066
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
45.352066
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
45.352066
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
45.65186
seq distance
230
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
45.65186
seq distance
230
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
45.664665
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
45.664665
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
45.732597
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
45.732597
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
45.732597
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
45.732597
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
45.816418
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
45.816418
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
45.816418
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
45.816418
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
46.143143
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
46.143143
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
46.164482
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
46.164482
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
46.262314
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
46.262314
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
46.417576
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
46.417576
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
46.417576
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
46.417576
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
46.765423
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
46.765423
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
46.82728
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
46.82728
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
46.922894
seq distance
204
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
46.922894
seq distance
204
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
46.924507
seq distance
209
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
46.924507
seq distance
209
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
47.12031
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
47.12031
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
47.144485
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
47.144485
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
47.189087
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
47.189087
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
48.01963
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
48.01963
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
48.033024
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
48.033024
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
48.033024
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
48.033024
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
48.033024
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
48.033024
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
48.033024
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
48.033024
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
48.33374
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
48.33374
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
48.33374
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
48.33374
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
48.50925
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
48.50925
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
48.58638
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
48.58638
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
48.902122
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
48.902122
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
49.006805
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
49.006805
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
49.437096
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
49.437096
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
49.525276
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
49.525276
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
49.525276
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
49.525276
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
50.03446
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
50.03446
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
50.18916
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
50.18916
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
50.36808
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
50.36808
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
50.36808
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
50.36808
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
50.40107
seq distance
225
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
50.40107
seq distance
225
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
50.44364
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
50.44364
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
50.463066
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
50.463066
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
50.463066
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
50.463066
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
50.481026
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
50.481026
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
50.481026
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
50.481026
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
50.481026
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
50.481026
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
50.654377
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
50.654377
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
50.654377
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
50.654377
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
50.773983
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
50.773983
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
50.803
seq distance
222
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
50.803
seq distance
222
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
50.995502
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
50.995502
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
51.057217
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
51.057217
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
51.15777
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
51.15777
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
51.15777
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
51.15777
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
51.206886
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
51.206886
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
51.206886
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
51.206886
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
51.5396
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
51.5396
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
51.600548
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
51.600548
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
51.600548
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
51.600548
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
51.612106
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
51.612106
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
51.612106
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
51.612106
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
51.72374
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
51.72374
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
51.907833
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
51.907833
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
51.907833
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
51.907833
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
52.508327
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
52.508327
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
52.52788
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
52.52788
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
52.683796
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
52.683796
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
53.008358
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
53.008358
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
53.28613
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
53.28613
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
53.28613
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
53.28613
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
53.482323
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
53.482323
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
53.55019
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
53.55019
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
53.55019
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
53.55019
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
53.600708
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
53.600708
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
53.703075
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
53.703075
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
53.703075
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
53.703075
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
53.703075
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
53.703075
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
53.79933
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
53.79933
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
54.12883
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
54.12883
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
54.22482
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
54.22482
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
54.33105
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
54.33105
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
54.33105
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
54.33105
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
54.419304
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
54.419304
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
54.419304
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
54.419304
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
54.53363
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
54.53363
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
54.62471
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
54.62471
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
54.62471
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
54.62471
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.88108
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.88108
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.88108
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.88108
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.88108
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.88108
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
55.05739
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
55.05739
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
55.242542
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
55.242542
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
55.84835
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
55.84835
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
55.990646
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
55.990646
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
56.065434
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
56.065434
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
56.2203
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
56.2203
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
56.38649
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
56.38649
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
56.625237
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
56.625237
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
56.630196
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
56.630196
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
57.591118
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
57.591118
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
57.957424
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
57.957424
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
58.795147
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
58.795147
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
58.937725
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
58.937725
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
59.0467
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
59.0467
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
59.094868
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
59.094868
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
59.192276
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
59.192276
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
59.748924
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
59.748924
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
59.748924
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
59.748924
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
59.748924
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
59.748924
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
59.748924
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
59.748924
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
60.461216
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
60.461216
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
60.555492
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
60.555492
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
60.555492
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
60.555492
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
60.643284
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
60.643284
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
61.06374
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
61.06374
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
61.1284
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
61.1284
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
61.38607
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
61.38607
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
61.38607
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
61.38607
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
61.818268
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
61.818268
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
61.818268
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
61.818268
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
61.818268
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
61.818268
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
62.0063
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
62.0063
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
62.0063
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
62.0063
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
62.261387
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
62.261387
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
62.34493
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
62.34493
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
62.425827
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
62.425827
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
62.425827
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
62.425827
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
63.420616
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
63.420616
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
63.420616
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
63.420616
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
63.442577
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
63.442577
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
64.910706
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
64.910706
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
64.910706
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
64.910706
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
66.027664
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
66.027664
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
66.139465
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
66.139465
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
66.139465
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
66.139465
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
66.889046
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
66.889046
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
66.889046
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
66.889046
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
67.0976
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
67.0976
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
68.231476
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
68.231476
seq distance
False
chain
A

Details

Redox score
63.33
PDB code
1r46
Structure name
structure of human alpha-galactosidase
Structure deposition date
2003-10-03
Thiol separation (Å)
8.59
Half-sphere exposure sum
60
Minimum pKa
11.03
% buried
nan
Peptide accession
P06280
Residue number A
172
Residue number B
174
Peptide name
Alpha-galactosidase A
A redox-regulated disulphide may form within Alpha-galactosidase A at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
2.7793868
seq distance
0
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
2.7793868
seq distance
0
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
2.7793868
seq distance
0
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
2.7793868
seq distance
0
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
2.8393254
seq distance
0
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
2.8393254
seq distance
0
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
2.8393254
seq distance
0
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
2.8393254
seq distance
0
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
3.7305706
seq distance
42
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
3.7305706
seq distance
42
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
3.7305706
seq distance
42
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
3.7305706
seq distance
42
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
4.201116
seq distance
30
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
4.201116
seq distance
30
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
4.201116
seq distance
30
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
4.201116
seq distance
30
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
4.2672076
seq distance
1
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
4.2672076
seq distance
1
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
4.2672076
seq distance
1
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
4.2672076
seq distance
1
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
4.658513
seq distance
1
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
4.658513
seq distance
1
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
4.658513
seq distance
1
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
4.658513
seq distance
1
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
5.6500673
seq distance
28
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
5.6500673
seq distance
28
chain
B
Nucleophile
position
170
score
100.0
distance
5.6500673
seq distance
28
chain
B
Nucleophile
position
170
score
100.0
distance
5.6500673
seq distance
28
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
5.8119507
seq distance
29
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
5.8119507
seq distance
29
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
6.6370993
seq distance
1
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
6.6370993
seq distance
1
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
7.5270195
seq distance
2
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
7.5270195
seq distance
2
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
7.5270195
seq distance
2
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
7.5270195
seq distance
2
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
7.6914887
seq distance
2
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
7.6914887
seq distance
2
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
8.197279
seq distance
30
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
8.197279
seq distance
30
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
8.618188
seq distance
47
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
8.618188
seq distance
47
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
8.618188
seq distance
47
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
8.618188
seq distance
47
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
8.892371
seq distance
7
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
8.892371
seq distance
7
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
9.077302
seq distance
4
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
9.077302
seq distance
4
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
9.897742
seq distance
63
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
9.897742
seq distance
63
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
10.030783
seq distance
8
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
10.030783
seq distance
8
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
10.178134
seq distance
3
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
10.178134
seq distance
3
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
10.178134
seq distance
3
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
10.178134
seq distance
3
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
10.4009495
seq distance
3
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
10.4009495
seq distance
3
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
10.44973
seq distance
48
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
10.44973
seq distance
48
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
10.44973
seq distance
48
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
10.44973
seq distance
48
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
10.44973
seq distance
48
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
10.44973
seq distance
48
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
10.44973
seq distance
48
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
10.44973
seq distance
48
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
10.690182
seq distance
89
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
10.690182
seq distance
89
chain
B
Proton donor
position
231
score
100.0
distance
10.690182
seq distance
89
chain
B
Proton donor
position
231
score
100.0
distance
10.690182
seq distance
89
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
10.894256
seq distance
4
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
10.894256
seq distance
4
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
11.138428
seq distance
29
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
11.138428
seq distance
29
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
11.415959
seq distance
46
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
11.415959
seq distance
46
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
11.427122
seq distance
62
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
11.427122
seq distance
62
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
11.776152
seq distance
88
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
11.776152
seq distance
88
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
11.77921
seq distance
60
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
11.77921
seq distance
60
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
11.77921
seq distance
60
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
11.77921
seq distance
60
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
11.910284
seq distance
18
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
11.910284
seq distance
18
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
11.910284
seq distance
18
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
11.910284
seq distance
18
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
11.910284
seq distance
18
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
11.910284
seq distance
18
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
11.910284
seq distance
18
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
11.910284
seq distance
18
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
12.103392
seq distance
6
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
12.103392
seq distance
6
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
12.103392
seq distance
6
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
12.103392
seq distance
6
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
12.2798195
seq distance
85
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
12.2798195
seq distance
85
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
12.2798195
seq distance
85
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
12.2798195
seq distance
85
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
12.363025
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
12.363025
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
12.363025
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
12.363025
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
12.399099
seq distance
45
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
12.399099
seq distance
45
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
12.399099
seq distance
45
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
12.399099
seq distance
45
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
12.399099
seq distance
45
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
12.399099
seq distance
45
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
12.67222
seq distance
38
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
12.67222
seq distance
38
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
12.945688
seq distance
49
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
12.945688
seq distance
49
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
13.351642
seq distance
19
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
13.351642
seq distance
19
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
13.351642
seq distance
19
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
13.351642
seq distance
19
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
13.351642
seq distance
19
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
13.351642
seq distance
19
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
13.492968
seq distance
38
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
13.492968
seq distance
38
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
13.492968
seq distance
38
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
13.492968
seq distance
38
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
13.492968
seq distance
38
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
13.492968
seq distance
38
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
13.560062
seq distance
63
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
13.560062
seq distance
63
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
13.790409
seq distance
59
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
13.790409
seq distance
59
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
13.872731
seq distance
28
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
13.872731
seq distance
28
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
14.064989
seq distance
25
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
14.064989
seq distance
25
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
14.1730585
seq distance
86
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
14.1730585
seq distance
86
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
14.310096
seq distance
84
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
14.310096
seq distance
84
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
14.372201
seq distance
124
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
14.372201
seq distance
124
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
14.372201
seq distance
124
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
14.372201
seq distance
124
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
14.372201
seq distance
124
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
14.372201
seq distance
124
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
14.476694
seq distance
41
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
14.476694
seq distance
41
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
14.530833
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
14.530833
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
14.922231
seq distance
155
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
14.922231
seq distance
155
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
15.13171
seq distance
35
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
15.13171
seq distance
35
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
15.337683
seq distance
34
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
15.337683
seq distance
34
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
15.714239
seq distance
6
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
15.714239
seq distance
6
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
15.714239
seq distance
6
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
15.714239
seq distance
6
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
15.726741
seq distance
125
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
15.726741
seq distance
125
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
16.225822
seq distance
122
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
16.225822
seq distance
122
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
16.225822
seq distance
122
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
16.225822
seq distance
122
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
16.4382
seq distance
45
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
16.4382
seq distance
45
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
16.4382
seq distance
45
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
16.4382
seq distance
45
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
16.468878
seq distance
123
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
16.468878
seq distance
123
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
16.476383
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
16.476383
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
16.624182
seq distance
156
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
16.624182
seq distance
156
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
16.624182
seq distance
156
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
16.624182
seq distance
156
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
16.624182
seq distance
156
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
16.624182
seq distance
156
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
16.756927
seq distance
5
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
16.756927
seq distance
5
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
16.756927
seq distance
5
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
16.756927
seq distance
5
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
17.478405
seq distance
24
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
17.478405
seq distance
24
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
17.551823
seq distance
11
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
17.551823
seq distance
11
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
17.781374
seq distance
81
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
17.781374
seq distance
81
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
17.854181
seq distance
154
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
17.854181
seq distance
154
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
17.854181
seq distance
154
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
17.854181
seq distance
154
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
17.998056
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
17.998056
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
17.998056
seq distance
False
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
17.998056
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
17.998056
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
17.998056
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
18.026035
seq distance
21
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
18.026035
seq distance
22
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
18.026035
seq distance
21
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
18.026035
seq distance
22
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
18.10971
seq distance
22
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
18.10971
seq distance
22
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
18.369343
seq distance
92
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
18.369343
seq distance
92
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
18.551441
seq distance
14
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
18.551441
seq distance
14
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
18.551441
seq distance
14
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
18.551441
seq distance
14
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
18.683329
seq distance
22
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
18.683329
seq distance
22
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
18.683329
seq distance
22
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
18.683329
seq distance
22
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
18.690071
seq distance
72
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
18.690071
seq distance
72
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
18.836485
seq distance
127
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
18.836485
seq distance
127
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
18.836485
seq distance
127
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
18.836485
seq distance
127
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
18.856558
seq distance
77
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
18.856558
seq distance
77
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
18.856558
seq distance
77
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
18.856558
seq distance
77
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
18.856558
seq distance
77
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
18.856558
seq distance
77
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
18.877333
seq distance
100
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
18.877333
seq distance
100
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
18.877333
seq distance
100
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
18.877333
seq distance
100
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
18.88178
seq distance
121
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
18.88178
seq distance
121
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
19.085304
seq distance
23
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
19.085304
seq distance
23
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
19.230532
seq distance
21
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
19.230532
seq distance
21
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
19.263004
seq distance
82
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
19.263004
seq distance
82
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
19.263004
seq distance
82
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
19.263004
seq distance
82
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
19.416786
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
19.416786
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
19.416786
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
19.416786
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
19.549131
seq distance
51
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
19.549131
seq distance
51
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
19.989424
seq distance
71
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
19.989424
seq distance
71
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
20.134823
seq distance
20
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
20.134823
seq distance
20
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
20.134823
seq distance
20
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
20.134823
seq distance
20
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
20.155607
seq distance
158
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
20.155607
seq distance
158
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
20.20873
seq distance
130
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
20.20873
seq distance
130
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
20.20873
seq distance
130
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
20.20873
seq distance
130
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
20.30329
seq distance
23
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
20.30329
seq distance
23
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
20.650742
seq distance
120
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
20.650742
seq distance
120
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
20.6572
seq distance
12
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
20.6572
seq distance
12
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
20.682144
seq distance
56
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
20.682144
seq distance
56
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
20.771986
seq distance
93
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
20.771986
seq distance
93
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
21.048384
seq distance
74
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
21.048384
seq distance
74
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
21.281296
seq distance
159
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
21.281296
seq distance
159
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
21.322279
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
21.322279
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
21.322279
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
21.322279
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
21.322279
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
21.322279
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
21.432787
seq distance
73
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
21.432787
seq distance
73
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
21.483294
seq distance
21
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
21.483294
seq distance
21
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
22.035141
seq distance
119
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
22.035141
seq distance
119
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
22.090082
seq distance
52
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
22.090082
seq distance
52
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
22.090082
seq distance
52
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
22.090082
seq distance
52
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
22.090082
seq distance
52
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
22.090082
seq distance
52
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
22.425453
seq distance
101
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
22.425453
seq distance
101
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
22.687454
seq distance
62
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
22.687454
seq distance
62
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
22.776344
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
22.776344
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
22.972555
seq distance
54
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
22.972555
seq distance
54
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
22.972555
seq distance
54
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
22.972555
seq distance
54
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
22.999435
seq distance
111
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
22.999435
seq distance
111
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
23.217365
seq distance
94
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
23.217365
seq distance
94
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
23.217365
seq distance
94
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
23.217365
seq distance
94
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
23.455416
seq distance
8
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
23.455416
seq distance
8
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
23.455416
seq distance
8
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
23.455416
seq distance
8
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
23.49974
seq distance
145
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
23.49974
seq distance
145
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
23.49974
seq distance
145
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
23.49974
seq distance
145
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.62005
seq distance
102
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.62005
seq distance
102
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.62005
seq distance
102
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.62005
seq distance
102
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
23.846176
seq distance
107
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
23.846176
seq distance
107
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
24.432047
seq distance
118
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
24.432047
seq distance
118
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
24.785028
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
24.785028
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
24.963417
seq distance
58
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
24.963417
seq distance
58
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
25.13964
seq distance
105
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
25.13964
seq distance
105
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
25.13964
seq distance
105
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
25.13964
seq distance
105
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
25.397614
seq distance
54
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
25.397614
seq distance
54
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
25.469126
seq distance
60
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
25.469126
seq distance
60
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
25.589956
seq distance
112
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
25.589956
seq distance
112
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
25.860212
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
25.860212
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
25.936228
seq distance
142
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
25.936228
seq distance
142
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
26.104553
seq distance
61
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
26.104553
seq distance
61
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.609615
seq distance
138
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.609615
seq distance
138
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
26.616924
seq distance
146
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
26.616924
seq distance
146
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
26.66774
seq distance
14
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
26.66774
seq distance
14
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
26.713057
seq distance
116
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
26.713057
seq distance
116
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
27.027023
seq distance
117
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
27.027023
seq distance
117
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
27.027023
seq distance
117
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
27.027023
seq distance
117
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
27.24843
seq distance
9
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
27.24843
seq distance
9
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
27.515923
seq distance
185
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
27.515923
seq distance
185
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
27.515923
seq distance
185
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
27.515923
seq distance
185
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
27.515923
seq distance
185
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
27.515923
seq distance
185
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
27.675266
seq distance
174
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
27.675266
seq distance
178
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
27.675266
seq distance
178
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
27.675266
seq distance
174
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
27.675266
seq distance
178
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
27.675266
seq distance
178
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.72883
seq distance
137
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.72883
seq distance
137
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.72883
seq distance
137
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.72883
seq distance
137
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
27.76738
seq distance
59
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
27.76738
seq distance
59
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
27.76738
seq distance
59
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
27.76738
seq distance
59
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.827398
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.827398
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.827398
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.827398
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
27.923954
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
27.923954
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
27.925533
seq distance
147
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
27.925533
seq distance
147
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
27.925533
seq distance
147
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
27.925533
seq distance
147
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.445543
seq distance
134
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.445543
seq distance
134
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
28.461761
seq distance
143
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
28.461761
seq distance
143
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
28.520918
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
28.520918
seq distance
False
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
28.520918
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
28.520918
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
28.541082
seq distance
14
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
28.541082
seq distance
14
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
28.869474
seq distance
179
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
28.869474
seq distance
179
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
29.168165
seq distance
186
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
29.168165
seq distance
186
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
29.168165
seq distance
186
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
29.168165
seq distance
186
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
29.168165
seq distance
186
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
29.168165
seq distance
186
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
29.658663
seq distance
175
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
29.658663
seq distance
175
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
30.359158
seq distance
188
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
30.359158
seq distance
188
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
30.59152
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
30.59152
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
30.654112
seq distance
167
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
30.654112
seq distance
167
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
30.8636
seq distance
False
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
30.8636
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
31.030657
seq distance
268
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
31.030657
seq distance
268
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
31.153452
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
31.153452
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
31.153452
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
31.153452
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
31.340425
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
31.340425
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
31.519964
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
31.519964
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
31.767996
seq distance
174
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
31.767996
seq distance
174
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
31.767996
seq distance
174
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
31.767996
seq distance
174
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
31.800772
seq distance
171
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
31.800772
seq distance
171
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
31.800772
seq distance
171
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
31.800772
seq distance
171
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.829655
seq distance
198
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.829655
seq distance
198
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
31.832737
seq distance
214
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
31.832737
seq distance
214
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
31.832737
seq distance
214
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
31.832737
seq distance
214
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
31.832737
seq distance
214
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
31.832737
seq distance
214
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.965454
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.965454
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
32.306786
seq distance
200
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
32.306786
seq distance
200
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
32.306786
seq distance
200
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
32.306786
seq distance
200
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
32.37388
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
32.37388
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
32.554092
seq distance
181
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
32.554092
seq distance
181
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
32.83159
seq distance
196
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
32.83159
seq distance
196
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
32.887333
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
32.887333
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
33.163082
seq distance
210
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
33.163082
seq distance
210
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
33.1639
seq distance
199
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
33.1639
seq distance
199
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
33.448853
seq distance
216
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
33.448853
seq distance
216
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
33.448853
seq distance
216
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
33.448853
seq distance
216
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
33.448853
seq distance
216
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
33.448853
seq distance
216
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
33.632248
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
33.632248
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
33.72117
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
33.72117
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
33.84384
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
33.84384
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
33.84384
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
33.84384
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
34.19929
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
34.19929
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
34.19929
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
34.19929
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
34.367268
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
34.367268
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
34.56099
seq distance
272
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
34.56099
seq distance
272
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
34.74749
seq distance
267
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
34.74749
seq distance
267
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
34.74749
seq distance
267
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
34.74749
seq distance
267
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
34.92319
seq distance
173
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
34.92319
seq distance
173
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
35.003952
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
35.003952
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
35.246788
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
35.246788
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
37.209553
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
37.209553
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
37.209553
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
37.209553
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
37.218662
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
37.218662
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
37.218662
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
37.218662
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
37.33629
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
37.33629
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
37.33629
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
37.33629
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
37.426437
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
37.426437
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
37.497776
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
37.497776
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
37.497776
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
37.497776
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
37.568874
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
37.568874
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
37.711727
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
37.711727
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
37.711727
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
37.711727
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
38.25918
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
38.25918
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
38.53143
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
38.53143
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
38.60612
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
38.60612
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
38.69929
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
38.69929
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
38.69929
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
38.69929
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
38.74917
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
38.74917
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
38.74917
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
38.74917
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
38.74917
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
38.74917
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
38.77933
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
38.77933
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
38.880413
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
38.880413
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
39.04374
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
39.04374
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
39.109226
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
39.109226
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
39.109226
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
39.109226
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
39.109226
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
39.109226
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
39.165386
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
39.165386
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
39.22243
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
39.22243
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
39.22243
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
39.22243
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
39.72076
seq distance
231
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
39.72076
seq distance
231
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
39.72076
seq distance
231
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
39.72076
seq distance
231
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
39.955635
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
39.955635
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
40.199844
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
40.199844
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
40.255646
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
40.255646
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
40.255646
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
40.255646
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
40.397133
seq distance
218
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
40.397133
seq distance
218
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
40.397133
seq distance
218
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
40.397133
seq distance
218
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
40.944046
seq distance
219
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
40.944046
seq distance
219
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
41.193943
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
41.193943
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
41.250534
seq distance
221
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
41.250534
seq distance
221
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
41.327682
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
41.327682
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
41.327682
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
41.327682
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
41.327682
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
41.327682
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.387753
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.387753
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
42.05398
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
42.05398
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
42.22101
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
42.22101
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
42.22101
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
42.22101
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
42.253296
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
42.253296
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
42.34382
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
42.34382
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
42.34382
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
42.34382
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
42.34382
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
42.34382
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
42.412792
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
42.412792
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
42.56763
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
42.56763
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
42.56763
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
42.56763
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
42.56763
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
42.56763
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
42.59371
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
42.59371
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
42.59371
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
42.59371
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
42.59371
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
42.59371
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
42.829994
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
42.829994
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
43.215958
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
43.215958
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
43.215958
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
43.215958
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
43.26485
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
43.26485
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
43.437504
seq distance
235
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
43.437504
seq distance
235
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
43.515926
seq distance
250
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
43.515926
seq distance
250
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
43.646442
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
43.646442
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
43.759254
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
43.759254
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
43.759254
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
43.759254
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
44.04162
seq distance
233
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
44.04162
seq distance
233
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
44.64899
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
44.64899
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
44.919014
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
44.919014
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
45.142445
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
45.142445
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
45.142445
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
45.142445
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
45.488537
seq distance
262
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
45.488537
seq distance
262
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
45.838974
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
45.838974
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
45.838974
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
45.838974
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
45.87698
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
45.87698
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
46.04161
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
46.04161
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
46.377304
seq distance
241
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
46.377304
seq distance
241
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
46.39497
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
46.39497
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
46.600967
seq distance
236
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
46.600967
seq distance
236
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
47.36135
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
47.36135
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
47.48329
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
47.48329
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
47.485382
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
47.485382
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
47.6284
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
47.6284
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
47.6284
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
47.6284
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
47.73219
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
47.73219
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
47.73219
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
47.73219
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
47.73219
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
47.73219
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
47.88406
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
47.88406
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
47.88406
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
47.88406
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
47.88406
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
47.88406
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
47.88406
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
47.88406
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
48.103645
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
48.103645
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
48.10925
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
48.10925
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
48.40791
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
48.40791
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
48.40791
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
48.40791
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
48.6525
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
48.6525
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
48.769413
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
48.769413
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
49.026108
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
49.026108
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
49.026108
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
49.026108
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
49.186
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
49.186
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
49.313335
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
49.313335
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
49.649933
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
49.649933
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
49.95763
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
49.95763
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
49.95763
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
49.95763
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
50.073704
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
50.073704
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
50.099976
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
50.099976
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
50.190857
seq distance
254
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
50.190857
seq distance
254
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
50.267815
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
50.267815
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
50.379528
seq distance
257
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
50.379528
seq distance
257
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
50.64957
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
50.64957
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
50.64957
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
50.64957
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
50.820343
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
50.820343
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
50.820343
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
50.820343
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
50.896576
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
50.896576
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
50.96669
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
50.96669
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
51.068836
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
51.068836
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
51.068836
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
51.068836
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
51.095524
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
51.095524
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
51.095524
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
51.095524
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
51.165874
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
51.165874
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
51.417744
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
51.417744
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
51.548695
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
51.548695
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
51.548695
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
51.548695
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
51.58527
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
51.58527
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
51.58527
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
51.58527
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
51.832264
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
51.832264
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
51.832264
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
51.832264
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
52.029125
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
52.029125
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
52.166992
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
52.166992
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
52.883034
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
52.883034
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
52.949165
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
52.949165
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
52.949165
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
52.949165
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
53.109905
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
53.109905
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
53.109905
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
53.109905
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
53.29447
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
53.29447
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
53.29447
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
53.29447
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
53.45188
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
53.45188
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
53.45188
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
53.45188
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
53.45188
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
53.45188
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
53.475254
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
53.475254
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
53.475254
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
53.475254
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
53.587914
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
53.587914
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
53.594563
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
53.594563
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
53.726334
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
53.726334
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
54.468266
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
54.468266
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
54.558006
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
54.558006
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
54.787846
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
54.787846
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.821117
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.821117
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.821117
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.821117
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.821117
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.821117
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
55.41225
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
55.41225
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
55.90977
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
55.90977
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
56.29244
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
56.29244
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
56.305103
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
56.305103
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
56.39659
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
56.39659
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
56.53132
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
56.53132
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
56.637104
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
56.637104
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
56.89957
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
56.89957
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
57.093426
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
57.093426
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
57.34248
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
57.34248
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.48389
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.48389
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
59.212513
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
59.212513
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
59.23449
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
59.23449
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
59.388233
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
59.388233
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
59.454044
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
59.454044
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
59.67124
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
59.67124
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
59.67124
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
59.67124
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
59.691154
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
59.691154
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
59.693172
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
59.693172
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
59.693172
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
59.693172
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
59.693172
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
59.693172
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
59.693172
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
59.693172
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
59.93194
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
59.93194
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
60.551834
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
60.551834
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
60.551834
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
60.551834
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
60.71264
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
60.71264
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
61.219814
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
61.219814
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
61.359344
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
61.359344
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
61.359344
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
61.359344
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
61.470097
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
61.470097
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
61.470097
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
61.470097
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
61.5973
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
61.5973
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
61.5973
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
61.5973
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
61.5973
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
61.5973
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
62.4646
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
62.4646
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
62.4646
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
62.4646
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
62.61735
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
62.61735
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
64.72251
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
64.72251
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
64.72251
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
64.72251
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
64.83271
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
64.83271
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
65.92851
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
65.92851
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
65.963844
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
65.963844
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
65.963844
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
65.963844
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
66.39286
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
66.39286
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
66.39286
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
66.39286
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
68.45076
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
68.45076
seq distance
False
chain
A

Details

Redox score
63.02
PDB code
3gxn
Structure name
crystal structure of apo alpha-galactosidase a at ph 4.5
Structure deposition date
2009-04-02
Thiol separation (Å)
9.2
Half-sphere exposure sum
65
Minimum pKa
nan
% buried
nan
Peptide accession
P06280
Residue number A
94
Residue number B
142
Peptide name
Alpha-galactosidase A
A redox-regulated disulphide may form within Alpha-galactosidase A at these cysteines. However, the redox score of this cysteine pair is lower than any known redox-active disulphide.

Relevent regions

In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
2.8485281
seq distance
0
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
2.8485281
seq distance
0
chain
B
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
2.8485281
seq distance
0
chain
B
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
2.8485281
seq distance
0
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
4.1381063
seq distance
2
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
4.1381063
seq distance
2
chain
B
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
4.1381063
seq distance
2
chain
B
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
4.1381063
seq distance
2
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
4.617861
seq distance
6
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
4.617861
seq distance
6
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
5.182285
seq distance
4
chain
B
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
5.182285
seq distance
4
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
5.7073836
seq distance
3
chain
B
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
5.7073836
seq distance
3
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
5.9682655
seq distance
4
chain
B
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
5.9682655
seq distance
4
chain
B
Nucleophile
position
170
score
100.0
distance
5.9682655
seq distance
4
chain
B
Nucleophile
position
170
score
100.0
distance
5.9682655
seq distance
4
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
6.4276657
seq distance
1
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
6.4276657
seq distance
1
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
6.4276657
seq distance
1
chain
B
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
6.4276657
seq distance
1
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
7.8431325
seq distance
31
chain
B
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
7.8431325
seq distance
31
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
8.287624
seq distance
49
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
8.287624
seq distance
49
chain
B
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
8.287624
seq distance
49
chain
B
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
8.287624
seq distance
49
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
8.38061
seq distance
9
chain
B
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
8.38061
seq distance
9
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
8.469073
seq distance
2
chain
B
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
8.469073
seq distance
2
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
9.276448
seq distance
30
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
9.276448
seq distance
30
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
9.574818
seq distance
7
chain
B
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
9.574818
seq distance
7
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
9.795127
seq distance
57
chain
B
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
9.795127
seq distance
57
chain
B
Proton donor
position
231
score
100.0
distance
9.795127
seq distance
57
chain
B
Proton donor
position
231
score
100.0
distance
9.795127
seq distance
57
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
10.410942
seq distance
50
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
10.410942
seq distance
50
chain
B
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
10.410942
seq distance
50
chain
B
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
10.410942
seq distance
50
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
10.482682
seq distance
56
chain
B
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
10.482682
seq distance
56
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
10.489056
seq distance
8
chain
B
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
10.489056
seq distance
8
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
10.807412
seq distance
48
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
10.807412
seq distance
48
chain
B
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
10.807412
seq distance
48
chain
B
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
10.807412
seq distance
48
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
10.895879
seq distance
6
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
10.895879
seq distance
6
chain
B
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
10.895879
seq distance
6
chain
B
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
10.895879
seq distance
6
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
11.509817
seq distance
90
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
11.509817
seq distance
90
chain
B
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
11.509817
seq distance
90
chain
B
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
11.509817
seq distance
90
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
11.578319
seq distance
31
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
11.578319
seq distance
31
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
11.591838
seq distance
95
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
11.591838
seq distance
95
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
11.591838
seq distance
95
chain
B
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
11.591838
seq distance
95
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
11.731908
seq distance
4
chain
B
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
11.731908
seq distance
4
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
12.025198
seq distance
53
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
12.025198
seq distance
53
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
12.025198
seq distance
53
chain
B
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
12.025198
seq distance
53
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
12.07679
seq distance
28
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
12.07679
seq distance
28
chain
B
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
12.07679
seq distance
28
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
12.07679
seq distance
28
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
13.276625
seq distance
94
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
13.276625
seq distance
94
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
13.486395
seq distance
13
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
13.486395
seq distance
13
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
13.486395
seq distance
13
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
13.486395
seq distance
13
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
13.603909
seq distance
54
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
13.603909
seq distance
54
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
13.630489
seq distance
47
chain
B
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
13.630489
seq distance
47
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
13.9830065
seq distance
92
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
13.9830065
seq distance
92
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
13.9830065
seq distance
92
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
13.9830065
seq distance
92
chain
B
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
13.9830065
seq distance
92
chain
B
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
13.9830065
seq distance
92
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
14.060419
seq distance
27
chain
B
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
14.060419
seq distance
27
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
14.08658
seq distance
51
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
14.08658
seq distance
51
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
14.08658
seq distance
51
chain
B
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
14.08658
seq distance
51
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
14.171953
seq distance
52
chain
B
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
14.171953
seq distance
52
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
14.467038
seq distance
7
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
14.467038
seq distance
7
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
14.7474
seq distance
96
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
14.7474
seq distance
96
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
14.7474
seq distance
96
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
14.7474
seq distance
96
chain
B
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
14.7474
seq distance
96
chain
B
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
14.7474
seq distance
96
chain
B
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
14.7474
seq distance
96
chain
B
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
14.7474
seq distance
96
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
14.834928
seq distance
40
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
14.834928
seq distance
40
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
15.101532
seq distance
97
chain
B
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
15.101532
seq distance
97
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
15.344074
seq distance
93
chain
B
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
15.344074
seq distance
93
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
15.642708
seq distance
45
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
15.642708
seq distance
45
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
15.642708
seq distance
45
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
15.642708
seq distance
45
chain
B
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
15.642708
seq distance
45
chain
B
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
15.642708
seq distance
45
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
15.834322
seq distance
91
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
15.834322
seq distance
91
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
15.965884
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
15.965884
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
15.965884
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
15.965884
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
16.100399
seq distance
90
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
16.100399
seq distance
90
chain
B
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
16.100399
seq distance
90
chain
B
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
16.100399
seq distance
90
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
16.105164
seq distance
39
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
16.105164
seq distance
39
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
16.3963
seq distance
93
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
16.3963
seq distance
93
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
16.3963
seq distance
93
chain
B
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
16.3963
seq distance
93
chain
B
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
16.3963
seq distance
93
chain
B
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
16.3963
seq distance
93
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
16.538143
seq distance
45
chain
B
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
16.538143
seq distance
45
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
17.008194
seq distance
78
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
17.008194
seq distance
78
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
17.025225
seq distance
41
chain
B
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
17.025225
seq distance
41
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
17.177698
seq distance
49
chain
B
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
17.177698
seq distance
49
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
17.315973
seq distance
123
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
17.315973
seq distance
123
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
17.830063
seq distance
8
chain
B
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
17.830063
seq distance
8
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
17.913813
seq distance
42
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
17.913813
seq distance
42
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
18.16257
seq distance
60
chain
B
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
18.16257
seq distance
60
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
18.355906
seq distance
14
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
18.355906
seq distance
14
chain
B
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
18.355906
seq distance
14
chain
B
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
18.355906
seq distance
14
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
18.362488
seq distance
68
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
18.362488
seq distance
68
chain
B
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
18.362488
seq distance
68
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
18.362488
seq distance
68
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
18.750929
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
18.750929
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
18.750929
seq distance
False
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
18.750929
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
18.750929
seq distance
False
chain
A
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
18.750929
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
18.752014
seq distance
89
chain
B
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
18.752014
seq distance
89
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
18.898218
seq distance
12
chain
B
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
18.898218
seq distance
12
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
19.153278
seq distance
95
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
19.153278
seq distance
95
chain
B
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
19.153278
seq distance
95
chain
B
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
19.153278
seq distance
95
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
19.157158
seq distance
42
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
19.157158
seq distance
42
chain
B
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
19.157158
seq distance
42
chain
B
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
19.157158
seq distance
42
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
19.254442
seq distance
122
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
19.254442
seq distance
122
chain
B
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
19.254442
seq distance
122
chain
B
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
19.254442
seq distance
122
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
19.429321
seq distance
50
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
19.429321
seq distance
50
chain
B
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
19.429321
seq distance
50
chain
B
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
19.429321
seq distance
50
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
19.45053
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
19.45053
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
19.768013
seq distance
77
chain
B
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
19.768013
seq distance
77
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
19.884228
seq distance
53
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
19.884228
seq distance
53
chain
B
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
19.884228
seq distance
53
chain
B
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
19.884228
seq distance
53
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
20.116125
seq distance
61
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
20.116125
seq distance
61
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
20.415611
seq distance
124
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
20.415611
seq distance
124
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
20.415611
seq distance
124
chain
B
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
20.415611
seq distance
124
chain
B
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
20.415611
seq distance
124
chain
B
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
20.415611
seq distance
124
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
20.498837
seq distance
11
chain
B
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
20.498837
seq distance
11
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
20.545639
seq distance
88
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
20.545639
seq distance
88
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
20.591852
seq distance
99
chain
B
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
20.591852
seq distance
99
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
20.92237
seq distance
10
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
20.92237
seq distance
10
chain
B
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
20.92237
seq distance
10
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
20.92237
seq distance
10
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
21.037542
seq distance
25
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
21.037542
seq distance
30
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
21.037542
seq distance
30
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
21.037542
seq distance
30
chain
B
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
21.037542
seq distance
25
chain
B
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
21.037542
seq distance
30
chain
B
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
21.037542
seq distance
30
chain
B
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
21.037542
seq distance
30
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
21.088482
seq distance
24
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
21.088482
seq distance
24
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
21.118866
seq distance
110
chain
B
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
21.118866
seq distance
110
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
21.267084
seq distance
9
chain
B
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
21.267084
seq distance
9
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
21.535229
seq distance
29
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
21.535229
seq distance
29
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
21.535229
seq distance
29
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
21.535229
seq distance
29
chain
B
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
21.535229
seq distance
29
chain
B
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
21.535229
seq distance
29
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
21.660154
seq distance
76
chain
B
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
21.660154
seq distance
76
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
21.74933
seq distance
87
chain
B
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
21.74933
seq distance
87
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
21.965557
seq distance
69
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
21.965557
seq distance
69
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
22.098799
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
22.098799
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
22.204552
seq distance
79
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
22.204552
seq distance
79
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
22.213476
seq distance
100
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
22.213476
seq distance
100
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
22.213476
seq distance
100
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
22.213476
seq distance
100
chain
B
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
22.213476
seq distance
100
chain
B
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
22.213476
seq distance
100
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
22.349653
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
22.349653
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
22.349653
seq distance
False
chain
A
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
22.349653
seq distance
False
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
22.551886
seq distance
62
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
22.551886
seq distance
62
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
22.551886
seq distance
62
chain
B
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
22.551886
seq distance
62
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
22.592827
seq distance
86
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
22.592827
seq distance
86
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
22.592827
seq distance
86
chain
B
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
22.592827
seq distance
86
chain
B
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
22.592827
seq distance
86
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
22.592827
seq distance
86
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
22.766851
seq distance
98
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
22.766851
seq distance
98
chain
B
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
22.766851
seq distance
98
chain
B
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
22.766851
seq distance
98
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
22.866217
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
22.866217
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
22.866217
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
22.866217
seq distance
False
chain
A
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
22.866217
seq distance
False
chain
A
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
22.866217
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
23.137985
seq distance
102
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
23.137985
seq distance
102
chain
B
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
23.137985
seq distance
102
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
23.137985
seq distance
102
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
23.188559
seq distance
113
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
23.188559
seq distance
113
chain
B
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
23.188559
seq distance
113
chain
B
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
23.188559
seq distance
113
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.2363
seq distance
70
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.2363
seq distance
70
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
23.2363
seq distance
70
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
23.2363
seq distance
70
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
23.252117
seq distance
83
chain
B
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
23.252117
seq distance
83
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
23.312849
seq distance
12
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
23.312849
seq distance
12
chain
B
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
23.312849
seq distance
12
chain
B
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
23.312849
seq distance
12
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
23.388988
seq distance
75
chain
B
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
23.388988
seq distance
75
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
23.814062
seq distance
82
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
23.814062
seq distance
82
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
24.113441
seq distance
70
chain
B
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
24.113441
seq distance
70
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
24.198576
seq distance
11
chain
B
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
24.198576
seq distance
11
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
24.364395
seq distance
21
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
24.364395
seq distance
21
chain
B
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
24.364395
seq distance
21
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
24.364395
seq distance
21
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
24.396248
seq distance
86
chain
B
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
24.396248
seq distance
86
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
24.580507
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
24.580507
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
24.731407
seq distance
73
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
24.731407
seq distance
73
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
24.731407
seq distance
73
chain
B
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
24.731407
seq distance
73
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
24.736923
seq distance
22
chain
B
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
24.736923
seq distance
22
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
24.753256
seq distance
109
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
24.753256
seq distance
109
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
24.883886
seq distance
56
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
24.883886
seq distance
56
chain
B
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
24.883886
seq distance
56
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
24.883886
seq distance
56
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
24.96587
seq distance
80
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
24.96587
seq distance
80
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
25.02436
seq distance
106
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
25.02436
seq distance
106
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
25.13177
seq distance
108
chain
B
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
25.13177
seq distance
108
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
25.273201
seq distance
126
chain
B
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
25.273201
seq distance
126
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
25.45046
seq distance
110
chain
B
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
25.45046
seq distance
110
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
25.56212
seq distance
22
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
25.56212
seq distance
22
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
26.226274
seq distance
71
chain
B
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
26.226274
seq distance
71
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.3811
seq distance
106
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
26.3811
seq distance
106
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
26.417252
seq distance
114
chain
B
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
26.417252
seq distance
114
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
26.467297
seq distance
84
chain
B
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
26.467297
seq distance
84
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
26.818306
seq distance
85
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
26.818306
seq distance
85
chain
B
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
26.818306
seq distance
85
chain
B
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
26.818306
seq distance
85
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
27.061165
seq distance
153
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
27.061165
seq distance
153
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
27.061165
seq distance
153
chain
B
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
27.061165
seq distance
153
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
27.061165
seq distance
153
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
27.061165
seq distance
153
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.384077
seq distance
105
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.384077
seq distance
105
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
27.384077
seq distance
105
chain
B
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
27.384077
seq distance
105
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
27.521723
seq distance
115
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
27.521723
seq distance
115
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
27.521723
seq distance
115
chain
B
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
27.521723
seq distance
115
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
27.582327
seq distance
127
chain
B
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
27.582327
seq distance
127
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
27.671759
seq distance
142
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
27.671759
seq distance
146
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
27.671759
seq distance
146
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
27.671759
seq distance
142
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
27.671759
seq distance
146
chain
B
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
27.671759
seq distance
146
chain
B
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
27.898813
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
27.898813
seq distance
False
chain
A
In FD; dbSNP:rs869312386.
original residue
W
variation residue
C
position
236
score
100.0
distance
27.898813
seq distance
False
chain
A
In FD.
original residue
W
variation residue
L
position
236
score
100.0
distance
27.898813
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
28.018543
seq distance
107
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
28.018543
seq distance
107
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
28.018543
seq distance
107
chain
B
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
28.018543
seq distance
107
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
28.101105
seq distance
111
chain
B
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
28.101105
seq distance
111
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
28.144388
seq distance
57
chain
B
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
28.144388
seq distance
57
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
28.38567
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
28.38567
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.50688
seq distance
102
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.50688
seq distance
102
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
28.587774
seq distance
154
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
28.587774
seq distance
154
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
28.587774
seq distance
154
chain
B
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
28.587774
seq distance
154
chain
B
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
28.587774
seq distance
154
chain
B
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
28.587774
seq distance
154
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
28.688644
seq distance
147
chain
B
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
28.688644
seq distance
147
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.702251
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312432.
original residue
S
variation residue
G
position
276
score
100.0
distance
28.702251
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
29.195137
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
29.195137
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485.
original residue
Q
variation residue
E
position
279
score
100.0
distance
29.195137
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
279
score
100.0
distance
29.195137
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
29.431087
seq distance
143
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
29.431087
seq distance
143
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
29.827589
seq distance
156
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
29.827589
seq distance
156
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
30.029629
seq distance
14
chain
B
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
30.029629
seq distance
14
chain
B
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
30.284992
seq distance
False
chain
A
In FD; dbSNP:rs797044746.
original residue
S
variation residue
C
position
235
score
100.0
distance
30.284992
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
30.359919
seq distance
236
chain
B
In FD; mild; dbSNP:rs104894852.
original residue
T
variation residue
A
position
410
score
100.0
distance
30.359919
seq distance
236
chain
B
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
30.371035
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
30.371035
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
H
position
244
score
100.0
distance
30.371035
seq distance
False
chain
A
In FD; dbSNP:rs727503948.
original residue
D
variation residue
N
position
244
score
100.0
distance
30.371035
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.22619
seq distance
166
chain
B
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
31.22619
seq distance
166
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
31.264585
seq distance
182
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
31.264585
seq distance
182
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
31.264585
seq distance
182
chain
B
In FD; loss of enzyme activity; dbSNP:rs869312163.
original residue
R
variation residue
P
position
356
score
100.0
distance
31.264585
seq distance
182
chain
B
In FD; has 15% of wild-type activity; dbSNP:rs869312163.
original residue
R
variation residue
Q
position
356
score
100.0
distance
31.264585
seq distance
182
chain
B
In FD; severe; dbSNP:rs104894827.
original residue
R
variation residue
W
position
356
score
100.0
distance
31.264585
seq distance
182
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
31.433674
seq distance
142
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
31.433674
seq distance
142
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
31.433674
seq distance
142
chain
B
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
31.433674
seq distance
142
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
31.691427
seq distance
168
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
31.691427
seq distance
168
chain
B
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
31.691427
seq distance
168
chain
B
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
31.691427
seq distance
168
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
31.807194
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
31.807194
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
32.152313
seq distance
149
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
32.152313
seq distance
149
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
32.16697
seq distance
164
chain
B
In FD.
original residue
E
variation residue
K
position
338
score
100.0
distance
32.16697
seq distance
164
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
32.302315
seq distance
62
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
32.302315
seq distance
62
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
32.316418
seq distance
135
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
32.316418
seq distance
135
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
32.37973
seq distance
139
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
32.37973
seq distance
139
chain
B
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
32.37973
seq distance
139
chain
B
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
32.37973
seq distance
139
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
32.389713
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515874.
original residue
L
variation residue
F
position
243
score
100.0
distance
32.389713
seq distance
False
chain
A
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
32.469677
seq distance
184
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
32.469677
seq distance
184
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
32.469677
seq distance
184
chain
B
In FD; dbSNP:rs869312224.
original residue
E
variation residue
A
position
358
score
100.0
distance
32.469677
seq distance
184
chain
B
In FD; loss of enzyme activity; dbSNP:rs797044774.
original residue
E
variation residue
K
position
358
score
100.0
distance
32.469677
seq distance
184
chain
B
In FD; dbSNP:rs730880453.
original residue
variation residue
position
358
score
100.0
distance
32.469677
seq distance
184
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
32.470825
seq distance
178
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
32.470825
seq distance
178
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
32.49191
seq distance
167
chain
B
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
32.49191
seq distance
167
chain
B
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
32.95197
seq distance
False
chain
A
In FD.
original residue
Q
variation residue
H
position
280
score
100.0
distance
32.95197
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
33.47092
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
33.47092
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
242
score
100.0
distance
33.47092
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs397515873.
original residue
I
variation residue
V
position
242
score
100.0
distance
33.47092
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
33.919186
seq distance
False
chain
A
In FD.
original residue
D
variation residue
E
position
234
score
100.0
distance
33.919186
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
33.92097
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
33.92097
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312393.
original residue
S
variation residue
P
position
247
score
100.0
distance
33.92097
seq distance
False
chain
A
In FD.
original residue
S
variation residue
SWTS
position
247
score
100.0
distance
33.92097
seq distance
False
chain
A
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
34.09708
seq distance
235
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
34.09708
seq distance
235
chain
B
In FD; dbSNP:rs878853698.
original residue
P
variation residue
A
position
409
score
100.0
distance
34.09708
seq distance
235
chain
B
In FD.
original residue
P
variation residue
T
position
409
score
100.0
distance
34.09708
seq distance
235
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
34.107494
seq distance
240
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
34.107494
seq distance
240
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
34.275517
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312162.
original residue
A
variation residue
G
position
352
score
100.0
distance
34.275517
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
34.5998
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312161.
original residue
Q
variation residue
R
position
330
score
100.0
distance
34.5998
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
34.75536
seq distance
False
chain
A
In FD; dbSNP:rs1555984869.
original residue
W
variation residue
R
position
340
score
100.0
distance
34.75536
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
34.7839
seq distance
141
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
34.7839
seq distance
141
chain
B
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
35.87435
seq distance
False
chain
A
In FD; dbSNP:rs869312246.
original residue
L
variation residue
S
position
414
score
100.0
distance
35.87435
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
36.544884
seq distance
False
chain
A
In FD.
original residue
A
variation residue
P
position
285
score
100.0
distance
36.544884
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
37.13291
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
37.13291
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
272
score
100.0
distance
37.13291
seq distance
False
chain
A
In FD; dbSNP:rs28935495.
original residue
N
variation residue
S
position
272
score
100.0
distance
37.13291
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
37.37812
seq distance
False
chain
A
In FD; dbSNP:rs1928171557.
original residue
M
variation residue
T
position
284
score
100.0
distance
37.37812
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
37.61109
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
37.61109
seq distance
False
chain
A
In FD; dbSNP:rs28935488.
original residue
V
variation residue
A
position
269
score
100.0
distance
37.61109
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs28935488.
original residue
V
variation residue
G
position
269
score
100.0
distance
37.61109
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
37.78271
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity.
original residue
N
variation residue
K
position
249
score
100.0
distance
37.78271
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
38.24767
seq distance
False
chain
A
In FD; dbSNP:rs1928195468.
original residue
A
variation residue
T
position
230
score
100.0
distance
38.24767
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
38.37684
seq distance
False
chain
A
In FD; dbSNP:rs869312214.
original residue
E
variation residue
K
position
341
score
100.0
distance
38.37684
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
38.88295
seq distance
False
chain
A
In FD.
original residue
D
variation residue
N
position
231
score
100.0
distance
38.88295
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
38.88295
seq distance
False
chain
A
Proton donor
position
231
score
100.0
distance
38.88295
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
39.065224
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
39.065224
seq distance
False
chain
A
In FD; dbSNP:rs104894839.
original residue
W
variation residue
C
position
287
score
100.0
distance
39.065224
seq distance
False
chain
A
In FD.
original residue
W
variation residue
G
position
287
score
100.0
distance
39.065224
seq distance
False
chain
A
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
39.389774
seq distance
186
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
39.389774
seq distance
186
chain
B
In FD; has 6% of wild-type activity; dbSNP:rs782598150.
original residue
G
variation residue
C
position
360
score
100.0
distance
39.389774
seq distance
186
chain
B
In FD; loss of enzyme activity.
original residue
G
variation residue
S
position
360
score
100.0
distance
39.389774
seq distance
186
chain
B
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
39.71429
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
39.71429
seq distance
False
chain
A
In FD; dbSNP:rs140329381.
original residue
I
variation residue
F
position
289
score
100.0
distance
39.71429
seq distance
False
chain
A
Decreased enzyme activity; dbSNP:rs140329381.
original residue
I
variation residue
V
position
289
score
100.0
distance
39.71429
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
39.753304
seq distance
199
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
39.753304
seq distance
199
chain
B
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
39.753304
seq distance
199
chain
B
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
39.753304
seq distance
199
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
39.891144
seq distance
187
chain
B
In FD; severe; dbSNP:rs28935494.
original residue
G
variation residue
R
position
361
score
100.0
distance
39.891144
seq distance
187
chain
B
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
39.904438
seq distance
False
chain
A
In FD.
original residue
P
variation residue
R
position
265
score
100.0
distance
39.904438
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
40.09481
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
40.09481
seq distance
False
chain
A
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
40.786602
seq distance
189
chain
B
In FD; dbSNP:rs111422676.
original residue
R
variation residue
H
position
363
score
100.0
distance
40.786602
seq distance
189
chain
B
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
40.8635
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
40.8635
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
40.8635
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
266
score
100.0
distance
40.8635
seq distance
False
chain
A
In FD; dbSNP:rs869312407.
original residue
D
variation residue
N
position
266
score
100.0
distance
40.8635
seq distance
False
chain
A
In FD; dbSNP:rs28935487.
original residue
D
variation residue
V
position
266
score
100.0
distance
40.8635
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
40.90318
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
40.90318
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
40.90318
seq distance
False
chain
A
In FD; dbSNP:rs28935492.
original residue
G
variation residue
A
position
328
score
100.0
distance
40.90318
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894832.
original residue
G
variation residue
R
position
328
score
100.0
distance
40.90318
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
328
score
100.0
distance
40.90318
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
41.018604
seq distance
False
chain
A
In FD; dbSNP:rs869312437.
original residue
A
variation residue
D
position
288
score
100.0
distance
41.018604
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
41.256603
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312254.
original residue
E
variation residue
D
position
48
score
100.0
distance
41.256603
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.389847
seq distance
False
chain
A
In FD; dbSNP:rs730880451.
original residue
M
variation residue
I
position
267
score
100.0
distance
41.389847
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
41.813686
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312152.
original residue
N
variation residue
S
position
228
score
100.0
distance
41.813686
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
41.889797
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
41.889797
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
R
variation residue
P
position
342
score
100.0
distance
41.889797
seq distance
False
chain
A
In FD; severe; dbSNP:rs28935493.
original residue
R
variation residue
Q
position
342
score
100.0
distance
41.889797
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
42.098743
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
42.098743
seq distance
False
chain
A
In FD; dbSNP:rs869312227.
original residue
G
variation residue
D
position
373
score
100.0
distance
42.098743
seq distance
False
chain
A
In FD; dbSNP:rs727504348.
original residue
G
variation residue
S
position
373
score
100.0
distance
42.098743
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
42.14867
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
42.14867
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
42.14867
seq distance
False
chain
A
In FD.
original residue
R
variation residue
L
position
49
score
100.0
distance
42.14867
seq distance
False
chain
A
In FD; dbSNP:rs398123205.
original residue
R
variation residue
P
position
49
score
100.0
distance
42.14867
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
49
score
100.0
distance
42.14867
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
42.68044
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
42.68044
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
42.68044
seq distance
False
chain
A
In FD.
original residue
N
variation residue
H
position
298
score
100.0
distance
42.68044
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
298
score
100.0
distance
42.68044
seq distance
False
chain
A
In FD; dbSNP:rs1569302985.
original residue
N
variation residue
S
position
298
score
100.0
distance
42.68044
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
42.714863
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312155.
original residue
A
variation residue
V
position
309
score
100.0
distance
42.714863
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
42.768986
seq distance
218
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312165.
original residue
R
variation residue
S
position
392
score
100.0
distance
42.768986
seq distance
218
chain
B
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
42.954674
seq distance
False
chain
A
In FD; dbSNP:rs28935489.
original residue
S
variation residue
F
position
297
score
100.0
distance
42.954674
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
42.97336
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312153.
original residue
V
variation residue
A
position
254
score
100.0
distance
42.97336
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
43.014477
seq distance
203
chain
B
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
43.014477
seq distance
203
chain
B
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
43.117657
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
43.117657
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
43.117657
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
316
end
322
score
100.0
distance
43.117657
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312157.
original residue
V
variation residue
A
position
316
score
100.0
distance
43.117657
seq distance
False
chain
A
In FD.
original residue
V
variation residue
E
position
316
score
100.0
distance
43.117657
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
43.57055
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
43.57055
seq distance
False
chain
A
In FD; atypical; dbSNP:rs104894846.
original residue
M
variation residue
I
position
296
score
100.0
distance
43.57055
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894830.
original residue
M
variation residue
V
position
296
score
100.0
distance
43.57055
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
43.62093
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
43.62093
seq distance
False
chain
A
In FD; dbSNP:rs28935486.
original residue
D
variation residue
V
position
264
score
100.0
distance
43.62093
seq distance
False
chain
A
In FD; dbSNP:rs190347120.
original residue
D
variation residue
Y
position
264
score
100.0
distance
43.62093
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
43.628506
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727505292.
original residue
I
variation residue
T
position
253
score
100.0
distance
43.628506
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
43.80897
seq distance
201
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
43.80897
seq distance
201
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
43.813763
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312164.
original residue
G
variation residue
A
position
375
score
100.0
distance
43.813763
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
43.855534
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
205
end
207
score
100.0
distance
43.855534
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
43.880966
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
43.880966
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
44.110424
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
44.110424
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
44.110424
seq distance
False
chain
A
In FD; dbSNP:rs28935491.
original residue
Q
variation residue
K
position
327
score
100.0
distance
44.110424
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
L
position
327
score
100.0
distance
44.110424
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312160.
original residue
Q
variation residue
R
position
327
score
100.0
distance
44.110424
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
44.202557
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
44.202557
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs28935490.
original residue
D
variation residue
N
position
313
score
100.0
distance
44.202557
seq distance
False
chain
A
In FD; dbSNP:rs28935490.
original residue
D
variation residue
Y
position
313
score
100.0
distance
44.202557
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
44.320072
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
44.320072
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894840.
original residue
R
variation residue
P
position
227
score
100.0
distance
44.320072
seq distance
False
chain
A
In FD; dbSNP:rs104894840.
original residue
R
variation residue
Q
position
227
score
100.0
distance
44.320072
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
44.69827
seq distance
False
chain
A
In FD; dbSNP:rs869312404.
original residue
N
variation residue
S
position
263
score
100.0
distance
44.69827
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
44.730988
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
44.730988
seq distance
False
chain
A
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
44.855698
seq distance
230
chain
B
In FD; mild; loss of enzyme activity.
original residue
variation residue
position
404
score
100.0
distance
44.855698
seq distance
230
chain
B
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
44.945316
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
44.945316
seq distance
False
chain
A
In FD.
original residue
N
variation residue
K
position
320
score
100.0
distance
44.945316
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
N
variation residue
Y
position
320
score
100.0
distance
44.945316
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
44.948727
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
44.948727
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
G
position
47
score
100.0
distance
44.948727
seq distance
False
chain
A
In FD; decreased alpha-galactosidase activity.
original residue
W
variation residue
R
position
47
score
100.0
distance
44.948727
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
45.022747
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
45.022747
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
45.315773
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
45.315773
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
45.547825
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312149.
original residue
K
variation residue
R
position
213
score
100.0
distance
45.547825
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
45.55376
seq distance
False
chain
A
In FD.
original residue
A
variation residue
D
position
377
score
100.0
distance
45.55376
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
45.6586
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312156.
original residue
D
variation residue
N
position
315
score
100.0
distance
45.6586
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
45.70959
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312158.
original residue
I
variation residue
S
position
317
score
100.0
distance
45.70959
seq distance
False
chain
A
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
45.878216
seq distance
209
chain
B
In FD; severe; with facial telangiectasias; dbSNP:rs1057519609.
original residue
variation residue
position
383
score
100.0
distance
45.878216
seq distance
209
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
45.998158
seq distance
204
chain
B
In FD.
original residue
C
variation residue
Y
position
378
score
100.0
distance
45.998158
seq distance
204
chain
B
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
46.518597
seq distance
False
chain
A
In FD; dbSNP:rs397515870.
original residue
P
variation residue
T
position
205
score
100.0
distance
46.518597
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
46.666412
seq distance
False
chain
A
In FD.
original residue
L
variation residue
F
position
300
score
100.0
distance
46.666412
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
47.14217
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
47.14217
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
47.14217
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
47.14217
seq distance
False
chain
A
In FD.
original residue
LH
variation residue
RS
begin
45
end
46
score
100.0
distance
47.14217
seq distance
False
chain
A
In FD; has 36% of wild-type activity.
original residue
H
variation residue
P
position
46
score
100.0
distance
47.14217
seq distance
False
chain
A
In FD; dbSNP:rs398123203.
original residue
H
variation residue
R
position
46
score
100.0
distance
47.14217
seq distance
False
chain
A
In FD; dbSNP:rs1928582757.
original residue
H
variation residue
Y
position
46
score
100.0
distance
47.14217
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
47.46794
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
P
position
45
score
100.0
distance
47.46794
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
47.515305
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
47.515305
seq distance
False
chain
A
In FD; dbSNP:rs1057521047.
original residue
C
variation residue
R
position
52
score
100.0
distance
47.515305
seq distance
False
chain
A
In FD; dbSNP:rs869312256.
original residue
C
variation residue
S
position
52
score
100.0
distance
47.515305
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
47.590546
seq distance
False
chain
A
In FD; dbSNP:rs1928196393.
original residue
W
variation residue
R
position
226
score
100.0
distance
47.590546
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
48.035275
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312154.
original residue
W
variation residue
R
position
262
score
100.0
distance
48.035275
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
48.114388
seq distance
False
chain
A
In FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs104894828.
original residue
R
variation residue
Q
position
301
score
100.0
distance
48.114388
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
48.174248
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312150.
original residue
P
variation residue
L
position
214
score
100.0
distance
48.174248
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
48.759975
seq distance
False
chain
A
In FD; dbSNP:rs730880439.
original residue
Q
variation residue
E
position
321
score
100.0
distance
48.759975
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
48.830074
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
48.830074
seq distance
False
chain
A
In FD; dbSNP:rs886044845.
original residue
C
variation residue
R
position
142
score
100.0
distance
48.830074
seq distance
False
chain
A
In FD.
original residue
C
variation residue
Y
position
142
score
100.0
distance
48.830074
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
48.907467
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
48.907467
seq distance
False
chain
A
In FD; dbSNP:rs398123199.
original residue
P
variation residue
L
position
40
score
100.0
distance
48.907467
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs104894831.
original residue
P
variation residue
S
position
40
score
100.0
distance
48.907467
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
49.26215
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
49.26215
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
49.26215
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
L
position
42
score
100.0
distance
49.26215
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs398123201.
original residue
M
variation residue
T
position
42
score
100.0
distance
49.26215
seq distance
False
chain
A
In FD; dbSNP:rs797044613.
original residue
M
variation residue
V
position
42
score
100.0
distance
49.26215
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
49.379757
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312148.
original residue
W
variation residue
R
position
204
score
100.0
distance
49.379757
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
49.471016
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
43
score
100.0
distance
49.471016
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
49.54729
seq distance
225
chain
B
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782449839.
original residue
W
variation residue
S
position
399
score
100.0
distance
49.54729
seq distance
225
chain
B
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
49.710598
seq distance
False
chain
A
In FD; dbSNP:rs1928199003.
original residue
Y
variation residue
D
position
216
score
100.0
distance
49.710598
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
49.734673
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
49.734673
seq distance
False
chain
A
In FD.
original residue
C
variation residue
R
position
172
score
100.0
distance
49.734673
seq distance
False
chain
A
In FD; dbSNP:rs869312318.
original residue
C
variation residue
Y
position
172
score
100.0
distance
49.734673
seq distance
False
chain
A
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
49.76247
seq distance
222
chain
B
In RNA edited version.
original residue
F
variation residue
Y
position
396
score
100.0
distance
49.76247
seq distance
222
chain
B
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
50.009365
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
50.009365
seq distance
False
chain
A
In FD; dbSNP:rs104894845.
original residue
A
variation residue
P
position
143
score
100.0
distance
50.009365
seq distance
False
chain
A
In FD; unknown pathological significance; dbSNP:rs104894845.
original residue
A
variation residue
T
position
143
score
100.0
distance
50.009365
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
50.202255
seq distance
False
chain
A
In FD.
original residue
E
variation residue
K
position
59
score
100.0
distance
50.202255
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
50.32252
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
170
score
100.0
distance
50.32252
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
50.32252
seq distance
False
chain
A
Nucleophile
position
170
score
100.0
distance
50.32252
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
50.339977
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
50.339977
seq distance
False
chain
A
In FD.
original residue
D
variation residue
H
position
92
score
100.0
distance
50.339977
seq distance
False
chain
A
In FD; dbSNP:rs886041315.
original residue
D
variation residue
Y
position
92
score
100.0
distance
50.339977
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
50.43691
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
171
score
100.0
distance
50.43691
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
50.56186
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
258
score
100.0
distance
50.56186
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
50.68568
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
50.68568
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
C
position
86
score
100.0
distance
50.68568
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312140.
original residue
Y
variation residue
H
position
86
score
100.0
distance
50.68568
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
50.790085
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
50.790085
seq distance
False
chain
A
In FD; dbSNP:rs104894838.
original residue
C
variation residue
W
position
202
score
100.0
distance
50.790085
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312344.
original residue
C
variation residue
Y
position
202
score
100.0
distance
50.790085
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
50.85714
seq distance
False
chain
A
In FD; mild; dbSNP:rs28935197.
original residue
N
variation residue
S
position
215
score
100.0
distance
50.85714
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
50.88514
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
50.88514
seq distance
False
chain
A
In FD.
original residue
D
variation residue
G
position
93
score
100.0
distance
50.88514
seq distance
False
chain
A
In FD; has no enzyme activity; dbSNP:rs869312270.
original residue
D
variation residue
N
position
93
score
100.0
distance
50.88514
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
51.527763
seq distance
False
chain
A
In FD; dbSNP:rs1569304898.
original residue
G
variation residue
D
position
85
score
100.0
distance
51.527763
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
51.67841
seq distance
False
chain
A
In FD.
original residue
S
variation residue
F
position
201
score
100.0
distance
51.67841
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
51.71622
seq distance
False
chain
A
In FD.
original residue
G
variation residue
D
position
261
score
100.0
distance
51.71622
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
52.181625
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312139.
original residue
I
variation residue
F
position
64
score
100.0
distance
52.181625
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
52.435726
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
52.435726
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
C
variation residue
S
position
94
score
100.0
distance
52.435726
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs113173389.
original residue
C
variation residue
Y
position
94
score
100.0
distance
52.435726
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
52.538345
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
52.538345
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
N
position
91
score
100.0
distance
52.538345
seq distance
False
chain
A
In FD; mild; loss of enzyme activity; dbSNP:rs869312141.
original residue
I
variation residue
T
position
91
score
100.0
distance
52.538345
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
52.641655
seq distance
False
chain
A
In FD; atypical.
original residue
M
variation residue
V
position
72
score
100.0
distance
52.641655
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
52.746185
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs781838005.
original residue
G
variation residue
D
position
80
score
100.0
distance
52.746185
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
52.766357
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
144
score
100.0
distance
52.766357
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
52.853218
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
52.853218
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
52.853218
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312151.
original residue
I
variation residue
M
position
219
score
100.0
distance
52.853218
seq distance
False
chain
A
In FD.
original residue
I
variation residue
N
position
219
score
100.0
distance
52.853218
seq distance
False
chain
A
In FD; has 46% of wild-type activity.
original residue
I
variation residue
T
position
219
score
100.0
distance
52.853218
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
52.878254
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312159.
original residue
P
variation residue
R
position
323
score
100.0
distance
52.878254
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
52.985764
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312262.
original residue
P
variation residue
L
position
60
score
100.0
distance
52.985764
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
53.06431
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
53.06431
seq distance
False
chain
A
In FD.
original residue
L
variation residue
P
position
89
score
100.0
distance
53.06431
seq distance
False
chain
A
In FD; dbSNP:rs1569304886.
original residue
L
variation residue
R
position
89
score
100.0
distance
53.06431
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
53.13479
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
53.13479
seq distance
False
chain
A
In FD; dbSNP:rs1555985175.
original residue
N
variation residue
D
position
224
score
100.0
distance
53.13479
seq distance
False
chain
A
In FD; dbSNP:rs869312383.
original residue
N
variation residue
S
position
224
score
100.0
distance
53.13479
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
53.430225
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
53.430225
seq distance
False
chain
A
In FD; dbSNP:rs869312399.
original residue
P
variation residue
L
position
259
score
100.0
distance
53.430225
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312399.
original residue
P
variation residue
R
position
259
score
100.0
distance
53.430225
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
53.531734
seq distance
False
chain
A
In FD.
original residue
Y
variation residue
S
position
134
score
100.0
distance
53.531734
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
53.967907
seq distance
False
chain
A
In FD; dbSNP:rs869312381.
original residue
C
variation residue
G
position
223
score
100.0
distance
53.967907
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.156544
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.156544
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.156544
seq distance
False
chain
A
In FD; dbSNP:rs869312258.
original residue
C
variation residue
F
position
56
score
100.0
distance
54.156544
seq distance
False
chain
A
In FD; dbSNP:rs104894836.
original residue
C
variation residue
G
position
56
score
100.0
distance
54.156544
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312258.
original residue
C
variation residue
Y
position
56
score
100.0
distance
54.156544
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
54.716785
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312145.
original residue
L
variation residue
F
position
180
score
100.0
distance
54.716785
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
54.76719
seq distance
False
chain
A
In FD.
original residue
G
variation residue
A
position
260
score
100.0
distance
54.76719
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
55.084747
seq distance
False
chain
A
In FD; dbSNP:rs1569304221.
original residue
A
variation residue
V
position
135
score
100.0
distance
55.084747
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
55.190212
seq distance
False
chain
A
In FD.
original residue
W
variation residue
S
position
95
score
100.0
distance
55.190212
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
55.3285
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs781927744.
original residue
E
variation residue
G
position
71
score
100.0
distance
55.3285
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
55.54105
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
L
variation residue
Q
position
167
score
100.0
distance
55.54105
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
55.54335
seq distance
False
chain
A
In FD; dbSNP:rs1928326524.
original residue
G
variation residue
R
position
138
score
100.0
distance
55.54335
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
55.695786
seq distance
False
chain
A
In FD; does not affect enzyme function; dbSNP:rs104894848.
original residue
S
variation residue
T
position
65
score
100.0
distance
55.695786
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
56.52212
seq distance
False
chain
A
In FD.
original residue
L
variation residue
V
position
166
score
100.0
distance
56.52212
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
56.880962
seq distance
False
chain
A
In FD; dbSNP:rs1569306168.
original residue
L
variation residue
P
position
32
score
54.54545454545454
distance
56.880962
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
57.479374
seq distance
False
chain
A
In FD; dbSNP:rs869312298.
original residue
L
variation residue
P
position
131
score
100.0
distance
57.479374
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
57.93127
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312138.
original residue
L
variation residue
W
position
36
score
90.9090909090909
distance
57.93127
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.055767
seq distance
False
chain
A
In FD; has 52% of wild-type activity; dbSNP:rs104894833.
original residue
E
variation residue
Q
position
66
score
100.0
distance
58.055767
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
58.377655
seq distance
False
chain
A
In FD; mild; dbSNP:rs104894837.
original residue
P
variation residue
S
position
146
score
100.0
distance
58.377655
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
58.404514
seq distance
False
chain
A
In FD; dbSNP:rs869312320.
original residue
G
variation residue
D
position
183
score
100.0
distance
58.404514
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
58.889835
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
58.889835
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
58.889835
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
58.889835
seq distance
False
chain
A
In FD.
original residue
variation residue
begin
112
end
117
score
100.0
distance
58.889835
seq distance
False
chain
A
In FD; dbSNP:rs104894834.
original residue
R
variation residue
C
position
112
score
100.0
distance
58.889835
seq distance
False
chain
A
In FD; mild; dbSNP:rs372966991.
original residue
R
variation residue
H
position
112
score
100.0
distance
58.889835
seq distance
False
chain
A
In FD.
original residue
R
variation residue
S
position
112
score
100.0
distance
58.889835
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
59.44085
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312136.
original residue
D
variation residue
G
position
33
score
63.63636363636363
distance
59.44085
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
59.63398
seq distance
False
chain
A
In FD.
original residue
D
variation residue
V
position
165
score
100.0
distance
59.63398
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
59.90691
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
59.90691
seq distance
False
chain
A
In FD; dbSNP:rs1555985829.
original residue
S
variation residue
N
position
148
score
100.0
distance
59.90691
seq distance
False
chain
A
In FD; dbSNP:rs1569304190.
original residue
S
variation residue
R
position
148
score
100.0
distance
59.90691
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
60.070377
seq distance
False
chain
A
In FD; dbSNP:rs1569304867.
original residue
A
variation residue
V
position
97
score
100.0
distance
60.070377
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
60.09262
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs727503950.
original residue
I
variation residue
T
position
198
score
100.0
distance
60.09262
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
60.695324
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
60.695324
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312137.
original residue
G
variation residue
E
position
35
score
81.81818181818183
distance
60.695324
seq distance
False
chain
A
In FD.
original residue
G
variation residue
R
position
35
score
81.81818181818183
distance
60.695324
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
60.782024
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
60.782024
seq distance
False
chain
A
In FD; loss of enzyme activity; dbSNP:rs869312146.
original residue
M
variation residue
I
position
187
score
100.0
distance
60.782024
seq distance
False
chain
A
In FD; decreased enzyme activity; dbSNP:rs869312340.
original residue
M
variation residue
V
position
187
score
100.0
distance
60.782024
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
61.07525
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
61.07525
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
61.07525
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312142.
original residue
F
variation residue
I
position
113
score
100.0
distance
61.07525
seq distance
False
chain
A
In FD; mild; dbSNP:rs869312142.
original residue
F
variation residue
L
position
113
score
100.0
distance
61.07525
seq distance
False
chain
A
In FD.
original residue
F
variation residue
S
position
113
score
100.0
distance
61.07525
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
61.13211
seq distance
False
chain
A
In FD; dbSNP:rs104894835.
original residue
N
variation residue
S
position
34
score
72.72727272727273
distance
61.13211
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
61.321587
seq distance
False
chain
A
In FD.
original residue
G
variation residue
E
position
128
score
100.0
distance
61.321587
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
61.42194
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
61.42194
seq distance
False
chain
A
In FD; loss of enzyme activity.
original residue
V
variation residue
G
position
164
score
100.0
distance
61.42194
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312144.
original residue
V
variation residue
L
position
164
score
100.0
distance
61.42194
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
62.414013
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
62.414013
seq distance
False
chain
A
In FD.
original residue
LA
variation residue
PT
begin
120
end
121
score
100.0
distance
62.414013
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs782197638.
original residue
A
variation residue
T
position
121
score
100.0
distance
62.414013
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
62.432285
seq distance
False
chain
A
In FD; has 42% of wild-type activity.
original residue
L
variation residue
V
position
120
score
100.0
distance
62.432285
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
64.08244
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
64.08244
seq distance
False
chain
A
In FD; dbSNP:rs28935195.
original residue
A
variation residue
T
position
156
score
100.0
distance
64.08244
seq distance
False
chain
A
In FD; dbSNP:rs869312307.
original residue
A
variation residue
V
position
156
score
100.0
distance
64.08244
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
64.93014
seq distance
False
chain
A
In FD.
original residue
G
variation residue
V
position
163
score
100.0
distance
64.93014
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
65.42051
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
65.42051
seq distance
False
chain
A
In FD; dbSNP:rs869312273.
original residue
R
variation residue
K
position
100
score
100.0
distance
65.42051
seq distance
False
chain
A
In FD.
original residue
R
variation residue
T
position
100
score
100.0
distance
65.42051
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
65.821434
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
65.821434
seq distance
False
chain
A
In FD; dbSNP:rs869312311.
original residue
W
variation residue
C
position
162
score
100.0
distance
65.821434
seq distance
False
chain
A
In FD; dbSNP:rs28935196.
original residue
W
variation residue
R
position
162
score
100.0
distance
65.821434
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
65.95768
seq distance
False
chain
A
In FD; unknown pathological significance; decreased enzyme activity; dbSNP:rs869312147.
original residue
R
variation residue
S
position
196
score
100.0
distance
65.95768
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
67.42904
seq distance
False
chain
A
Does not affect enzyme activity; dbSNP:rs869312143.
original residue
I
variation residue
T
position
154
score
100.0
distance
67.42904
seq distance
False
chain
A

Details

Redox score
62.87
PDB code
1r47
Structure name
structure of human alpha-galactosidase
Structure deposition date
2003-10-03
Thiol separation (Å)
9.73
Half-sphere exposure sum
52
Minimum pKa
10.79
% buried
nan
Peptide accession
P06280
Residue number A
142
Residue number B
174
Peptide name
Alpha-galactosidase A
If this tool was useful for finding a disulphide, please cite: